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Terminology chevron_right Concepts chevron_right 41443008

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Component

41443008

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple malformation syndrome with limb defect as major feature (disorder)

Shortest Term

Multiple malformation syndrome with limb defect as major feature

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Multiple malformation syndrome with limb defect as major feature (disorder)

SCTID: 41443008, Primitive, Active

41443008|Multiple malformation syndrome with limb defect as major feature (disorder)|

en Multiple malformation syndrome with limb defect as major feature
en Multiple malformation syndrome with limb defect as major feature (disorder)

Expression

41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
69120017 - Multiple malformation syndrome with limb defect as major feature (en) View
69120017	en	Synonym (core metadata concept)	Multiple malformation syndrome with limb defect as major feature	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
778232013 - Multiple malformation syndrome with limb defect as major feature (disorder) (en) View
778232013	en	Fully specified name (core metadata concept)	Multiple malformation syndrome with limb defect as major feature (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
69121018 - Multiple malformation syndrome with limb defect as major feature, NOS (en) View
69121018	en	Synonym (core metadata concept)	Multiple malformation syndrome with limb defect as major feature, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5020735021) - 41443008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526539025) - 41443008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526540028) - 41443008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (775642026) - 41443008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2266859028) - 41443008 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997612020) - 41443008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (215653026) - 41443008 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1363286000 View
1363286000	Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)	Mesomelic dysplasia, digital anomalies, intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1340173008 View
1340173008	En1-related dorsoventral syndrome (disorder)	Endove syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208338004 View
1208338004	Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)	Medeira dennis donnai syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187277001 View
1187277001	Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)	Short stature, brachydactyly, obesity, global developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187115008 View
1187115008	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187132007 View
1187132007	Sugarman brachydactyly (disorder)	Sugarman brachydactyly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172635005 View
1172635005	Split-foot malformation, mesoaxial polydactyly syndrome (disorder)	Split-foot malformation, mesoaxial polydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
268262006 View
268262006	Acrocephalosyndactyly (disorder)	Apert's syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
890221004 View
890221004	Acrocardiofacial syndrome (disorder)	Acrocardiofacial syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782758009 View
782758009	Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783003009 View
783003009	Thoracomelic dysplasia (disorder)	Thoracomelic dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783137003 View
783137003	Radial deficiency, tibial hypoplasia syndrome (disorder)	Radial deficiency, tibial hypoplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783156008 View
783156008	Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder)	Fatco syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783551005 View
783551005	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)	15q26.3 microdeletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783553008 View
783553008	Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)	Wahab syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783562005 View
783562005	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)	Syndactyly, nystagmus syndrome due to trisomy 2q31.1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783700001 View
783700001	Syndactyly, polydactyly, ear lobe syndrome (disorder)	Syndactyly, polydactyly, ear lobe syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783738002 View
783738002	Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)	Ostravik lindemann solberg syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783774006 View
783774006	External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Rasmussen johnsen thomsen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784351000 View
784351000	Antecubital pterygium syndrome (disorder)	Antecubital pterygium syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770561007 View
770561007	Lower limb malformation hypospadias syndrome (disorder)	Fried goldberg mundel syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770679002 View
770679002	Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Lundberg syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771177009 View
771177009	Ectrodactyly polydactyly syndrome (disorder)	Ectrodactyly polydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771180005 View
771180005	Hallux varus, preaxial polysyndactyly syndrome (disorder)	Kleiner holmes syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771182002 View
771182002	Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)	Sparse hair, short stature, skin anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771264005 View
771264005	Absent radius, anogenital anomalies syndrome (disorder)	Absent radius, anogenital anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771335004 View
771335004	Ectodermal dysplasia syndactyly syndrome (disorder)	Ectodermal dysplasia syndactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771439009 View
771439009	14q22q23 microdeletion syndrome (disorder)	Monosomy 14q22q23	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773279006 View
773279006	Postaxial polydactyly, dental, vertebral anomalies syndrome (disorder)	Postaxial polydactyly, dental, vertebral anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773583007 View
773583007	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774070008 View
774070008	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)	Fbln1-related developmental delay, central nervous system anomaly, syndactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
777998000 View
777998000	Temtamy preaxial brachydactyly syndrome (disorder)	Temtamy preaxial brachydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763066009 View
763066009	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)	Houlston ironton temple syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763462004 View
763462004	X-linked lethal multiple pterygium syndrome (disorder)	X-linked lethal multiple pterygium syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763743003 View
763743003	Intellectual disability, spasticity, ectrodactyly syndrome (disorder)	Jancar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764857004 View
764857004	Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)	Absent tibia polydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766032007 View
766032007	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)	Hartsfield syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766765009 View
766765009	Radio-renal syndrome (disorder)	Hội chứng đài-thận	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766874001 View
766874001	Cono-spondylar dysplasia (disorder)	Cono-spondylar dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766881008 View
766881008	Carney complex, trismus, pseudocamptodactyly syndrome (disorder)	Carney complex variant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723409007 View
723409007	Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	Daneman davy mancer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723453002 View
723453002	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	Phaver syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723611008 View
723611008	Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)	Congenital deafness with split hands and feet	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723676007 View
723676007	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725096002 View
725096002	Cryptomicrotia brachydactyly syndrome (disorder)	Tonoki ohura niikawa syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725140007 View
725140007	Temple baraitser syndrome (disorder)	Temple baraitser syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725289009 View
725289009	5-amino-4-imidazole carboxamide ribosiduria (disorder)	5-amino-4-imidazole carboxamide ribosiduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726621009 View
726621009	Caudal appendage deafness syndrome (disorder)	Lynch lee murday syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732250002 View
732250002	Craniosynostosis fibular aplasia syndrome (disorder)	Lowry syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732927000 View
732927000	Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Czeizel losonci syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732955001 View
732955001	Symphalangism with multiple anomalies of hands and feet syndrome (disorder)	Learman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732956000 View
732956000	Brachydactyly and distal symphalangism syndrome (disorder)	Sillence syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732957009 View
732957009	Brachydactyly and preaxial hallux varus syndrome (disorder)	Brachydactyly and preaxial hallux varus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733030003 View
733030003	Congenital hypoplasia of ulna and split foot syndrome (disorder)	Van den berghe dequecker syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733045005 View
733045005	Camptobrachydactyly (disorder)	Camptobrachydactyly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733064004 View
733064004	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)	Oslam syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733068001 View
733068001	Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Holmes collins syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733087007 View
733087007	Polydactyly myopia syndrome (disorder)	Czeizel brooser syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733088002 View
733088002	Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	Pfeiffer mayer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733093004 View
733093004	Banki syndrome (disorder)	Banki syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733094005 View
733094005	Dandy-walker malformation with postaxial polydactyly syndrome (disorder)	Pierquin syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733117001 View
733117001	Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Piussan lenaerts mathieu syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733118006 View
733118006	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)	Johnson munson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733454004 View
733454004	Long thumb brachydactyly syndrome (disorder)	Brachydactyly long thumb type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733456002 View
733456002	Triphalangeal thumb and dislocation of patella syndrome (disorder)	Say field coldwell syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733466005 View
733466005	Camptodactyly taurinuria syndrome (disorder)	Camptodactyly taurinuria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717785002 View
717785002	Coloboma of macula with brachydactyly type b syndrome (disorder)	Sorsby syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718679004 View
718679004	Mammary digital nail syndrome (disorder)	Mammary digital nail syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719019000 View
719019000	Wt limb blood syndrome (disorder)	Wt limb blood syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719021005 View
719021005	Dk phocomelia syndrome (disorder)	Dk phocomelia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719162001 View
719162001	Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Tsukahara syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719305006 View
719305006	Stapes ankylosis with broad thumb and toe syndrome (disorder)	Teunissen cremers syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719397009 View
719397009	Mesomelic dysplasia kantaputra type (disorder)	Mesomelic dysplasia thai type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719685004 View
719685004	Absent thumb with short stature and immunodeficiency syndrome (disorder)	Absent thumb with short stature and immunodeficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719950001 View
719950001	Triphalangeal thumb and polysyndactyly syndrome (disorder)	Triphalangeal thumb and polysyndactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720412009 View
720412009	Acropectoral syndrome (disorder)	Acropectoral syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720415006 View
720415006	Acrorenoocular syndrome (disorder)	Acrorenoocular syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720457000 View
720457000	Acropectorovertebral dysplasia (disorder)	F syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720458005 View
720458005	Acrorenal syndrome (disorder)	Acrorenal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720464003 View
720464003	Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Acro-dermato-ungual-lacrimal-tooth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720467005 View
720467005	Aniridia and absent patella syndrome (disorder)	Aniridia and absent patella syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720498007 View
720498007	Aphalangy and syndactyly with microcephaly syndrome (disorder)	Aphalangy and syndactyly with microcephaly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720599002 View
720599002	Campomelia cumming type (disorder)	Cumming syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720601000 View
720601000	Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720603002 View
720603002	Camptodactyly syndrome guadalajara type 2 (disorder)	Camptodactyly syndrome guadalajara type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720633009 View
720633009	Syndactyly type 7 (disorder)	Syndactyly type 7	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720747002 View
720747002	Cooks syndrome (disorder)	Cooks syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720815000 View
720815000	Capra demarco syndrome (disorder)	Berant syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720818003 View
720818003	Craniosynostosis philadelphia type (disorder)	Craniosynostosis philadelphia type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720819006 View
720819006	Curry jones syndrome (disorder)	Curry jones syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720856002 View
720856002	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Eem syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720952001 View
720952001	Aplasia of fibula and ectrodactyly syndrome (disorder)	Fibular aplasia and ectrodactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720953006 View
720953006	Fibular dimelia diplopodia syndrome (disorder)	Fibular dimelia diplopodia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720984008 View
720984008	Angel-shaped phalangoepiphyseal dysplasia (disorder)	Angel-shaped phalangoepiphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721009008 View
721009008	Heart defect and limb shortening syndrome (disorder)	Cardioskeletal syndrome kuwaiti type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721010003 View
721010003	Heart-hand syndrome type 2 (disorder)	Tabatznik syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721013001 View
721013001	Heart-hand syndrome type 3 (disorder)	Heart-hand syndrome type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721014007 View
721014007	Heart-hand syndrome slovenian type (disorder)	Heart-hand syndrome slovenian type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721017000 View
721017000	Postaxial polydactyly and intellectual disability syndrome (disorder)	Oliver syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721069005 View
721069005	Short fifth metacarpal insulin resistance syndrome (disorder)	Short fifth metacarpal insulin resistance syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721221000 View
721221000	Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Santos mateus leal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721222007 View
721222007	Hirschsprung disease with type d brachydactyly syndrome (disorder)	Hirschsprung disease with type d brachydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721296004 View
721296004	Fuhrmann syndrome (disorder)	Fuhrmann syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721880009 View
721880009	Congenital microgastria with limb reduction defect syndrome (disorder)	Congenital microgastria with limb reduction defect syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721970009 View
721970009	Persistent mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)	Persistent mullerian derivative with lymphangiectasia and polydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721976003 View
721976003	Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	Mardini nyhan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722019000 View
722019000	Oculootoradial syndrome (disorder)	Ivic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722032005 View
722032005	Karsch neugebauer syndrome (disorder)	Karsch neugebauer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722298001 View
722298001	Ballard syndrome (disorder)	Ballard syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722383001 View
722383001	Catel manzke syndrome (disorder)	Catel manzke syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722452004 View
722452004	Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Guttmacher syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722463001 View
722463001	Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Macular coloboma, cleft palate, hallux valgus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715440003 View
715440003	Mirror hands and feet co-occurrent with nasal defect (disorder)	Sandrow syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715474004 View
715474004	Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Du pan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715505002 View
715505002	Rhizomelic dysplasia of patterson lowry type (disorder)	Rhizomelic dysplasia patterson lowry type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715523005 View
715523005	Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Mirror polydactyly, vertebral segmentation and limb defect syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715652002 View
715652002	Mesomelic dysplasia savarirayan type (disorder)	Mesomelic dysplasia savarirayan type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716099003 View
716099003	Absence deformity of leg and congenital cataract syndrome (disorder)	Absence deformity of leg and congenital cataract syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716106000 View
716106000	Limb body wall complex (disorder)	Limb body wall complex	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716110002 View
716110002	Upper limb defect with eye and ear abnormalities syndrome (disorder)	Upper limb defect with eye and ear abnormalities syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716231009 View
716231009	Spondylocamptodactyly syndrome (disorder)	Spondylocamptodactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716334004 View
716334004	Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Urban rogers meyer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716996008 View
716996008	Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)	L1 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702413000 View
702413000	Rapadilino syndrome (disorder)	Rapadilino syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702425002 View
702425002	Hand-foot-genital syndrome (disorder)	Hand-foot-uterus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
703403003 View
703403003	Ophthalmo-acromelic syndrome (disorder)	Anophthalmia-syndactyly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
699256006 View
699256006	Timothy syndrome type 1 (disorder)	Timothy syndrome type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
17608003 View
17608003	Child syndrome (disorder)	Child syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
19092004 View
19092004	Holt-oram syndrome (disorder)	Holt oram syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23817003 View
23817003	Levy-hollister syndrome (disorder)	Levy-hollister syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
33979003 View
33979003	Nievergelt's syndrome (disorder)	Nievergelt syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
34748004 View
34748004	Adams-oliver syndrome (disorder)	Type 2 aplasia cutis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
38371006 View
38371006	Poland anomaly (disorder)	Poland anomaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
66783006 View
66783006	Popliteal pterygium syndrome (disorder)	Popliteal pterygium syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68551007 View
68551007	Limb reduction-ichthyosis syndrome (disorder)	Limb reduction-ichthyosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
77542002 View
77542002	Grebe syndrome (disorder)	Grebe syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80773006 View
80773006	Escobar syndrome (disorder)	Escobar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85589009 View
85589009	Radial aplasia-thrombocytopenia syndrome (disorder)	Tar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237918004 View
237918004	Klein-waardenberg's syndrome (disorder)	Klein-waardenberg syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239028001 View
239028001	Odontotrichomelic syndrome (disorder)	Freire-maia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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ExtendedMap object (60fb7adc-6ebb-5b8e-be51-d41b3e928221) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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