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Terminology chevron_right Concepts chevron_right 402775007

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Component

402775007

The component that hold information about this concept.

Fully Specified Name (FSN)

Genetic disorder of nail (disorder)

Shortest Term

Genetic disorder of nail

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Genetic disorder of nail (disorder)

SCTID: 402775007, Defined, Active

402775007|Genetic disorder of nail (disorder)|

en Genetic disorder of nail
en Genetic disorder of nail (disorder)

Expression

402775007 |Genetic disorder of nail (disorder)|
 === 17790008 |Disorder of nail (disorder)| + 
782964007 |Genetic disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 770802007 |Nail unit structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1781869010 - Genetic disorder of nail (en) View
1781869010	en	Synonym (core metadata concept)	Genetic disorder of nail	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1770699018 - Genetic disorder of nail (disorder) (en) View
1770699018	en	Fully specified name (core metadata concept)	Genetic disorder of nail (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2248942024) - 402775007 -> 402625004 (116680003) View
116680003 \|Is a (attribute)\|	402625004 \|Developmental and/or congenital abnormality of nail (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11192518026) - 402775007 -> 7748002 (363698007) View
363698007 \|Finding site (attribute)\|	7748002 \|Skin appendage structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11192519023) - 402775007 -> 770802007 (363698007) View
363698007 \|Finding site (attribute)\|	770802007 \|Nail unit structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11509972021) - 402775007 -> 17790008 (116680003) View
116680003 \|Is a (attribute)\|	17790008 \|Disorder of nail (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11509973027) - 402775007 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2288111028) - 402775007 -> 72651009 (363698007) View
363698007 \|Finding site (attribute)\|	72651009 \|Nail structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2640689027) - 402775007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
17790008 View
17790008	Disorder of nail (disorder)	Nail disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1340173008 View
1340173008	En1-related dorsoventral syndrome (disorder)	Endove syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1279835008 View
1279835008	Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1254893000 View
1254893000	Congenital isolated onychodysplasia (disorder)	Congenital isolated onychodysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1254945005 View
1254945005	Hereditary distal onycholysis (disorder)	Hereditary distal onycholysis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237509001 View
1237509001	Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder)	Plack syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1230005002 View
1230005002	Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome	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
402776008 View
402776008	Inherited deformity of nail (disorder)	Inherited deformity of nail	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782878007 View
782878007	Autosomal recessive nail dysplasia (disorder)	Autosomal recessive nail dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783555001 View
783555001	Hypotrichosis and deafness syndrome (disorder)	Hypotrichosis and deafness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
786039009 View
786039009	Arthrogryposis and ectodermal dysplasia syndrome (disorder)	Stoll alembik finck syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771239007 View
771239007	Hidrotic ectodermal dysplasia christianson fourie type (disorder)	Christianson fourie syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773625007 View
773625007	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Soft syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773700005 View
773700005	Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder)	Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773735007 View
773735007	Deafness with onychodystrophy syndrome (disorder)	Deafness with onychodystrophy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763658004 View
763658004	Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Hopp syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763686007 View
763686007	Curly hair, acral keratoderma, caries syndrome (disorder)	Curly hair, acral keratoderma, caries syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764995008 View
764995008	Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder)	Ectodermal dysplasia short stature syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766813000 View
766813000	Trichoodontoonychial dysplasia (disorder)	Trichoodontoonychial dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723451000 View
723451000	Pili torti onychodysplasia syndrome (disorder)	Pili torti onychodysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723584003 View
723584003	Stern lubinsky durrie syndrome (disorder)	Corneodermatoosseous 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
734018003 View
734018003	Ectodermal dysplasia trichoodontoonychial type (disorder)	Ectodermal dysplasia trichoodontoonychial type	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
720345008 View
720345008	Severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	Winged helix deficiency	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
720494009 View
720494009	Anonychia with microcephaly syndrome (disorder)	Teebi kaurah syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720573009 View
720573009	Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Senior syndrome	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
721085000 View
721085000	Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Heimler syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721090002 View
721090002	Dermatoosteolysis kirghizian type (disorder)	Kirghizian dermatoosteolysis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721091003 View
721091003	Dermo-odonto dysplasia (disorder)	Dermo odontodysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721147000 View
721147000	Hidrotic ectodermal dysplasia halal type (disorder)	Halal setton wang syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721223002 View
721223002	Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Al gazali donnai muller syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722062004 View
722062004	Oculotrichodysplasia (disorder)	Oculotrichodysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722436002 View
722436002	Dystrophic epidermolysis bullosa nails only (disorder)	Dystrophic epidermolysis bullosa nails only	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700062000 View
700062000	Schöpf-schulz-passarge syndrome (disorder)	Schöpf schulz passarge syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
441944007 View
441944007	Oto-onycho-peroneal syndrome (disorder)	Oto-onycho-peroneal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
400211001 View
400211001	Hereditary lymphedema and yellow nails (disorder)	Yellow nail syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403788000 View
403788000	Nail dystrophy due to darier's disease (disorder)	Nail dystrophy due to darier disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1271009 View
1271009	Knuckle pads, deafness and leukonychia syndrome (disorder)	Bart-pumphrey syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
7731005 View
7731005	Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)	Anhidrotic ectodermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
18899000 View
18899000	Schinzel-giedion syndrome (disorder)	Schinzel-giedon syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
22199006 View
22199006	Nail-patella syndrome (disorder)	Onychoosteodysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
27025001 View
27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder)	Hypohidrotic autosomal recessive ectodermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
39427000 View
39427000	Pachyonychia congenita syndrome (disorder)	Pachyonychia congenita	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54209007 View
54209007	Hidrotic ectodermal dysplasia syndrome (disorder)	Clouston syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
88220006 View
88220006	Pachydermoperiostosis syndrome (disorder)	Pachydermoperiostosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239007005 View
239007005	Hypohidrotic x-linked ectodermal dysplasia (disorder)	Christ-siemens-touraine syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239010003 View
239010003	Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)	Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239021007 View
239021007	Hypodontia and nail dysgenesis (disorder)	Hypodontia and nail dysgenesis	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
239055005 View
239055005	Hereditary clubbing (disorder)	Acropachy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
277807007 View
277807007	Curry-hall syndrome (disorder)	Curry-hall syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278523002 View
278523002	Hereditary striate leuconychia (disorder)	Hereditary striate leuconychia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
367520004 View
367520004	Incontinentia pigmenti syndrome (disorder)	Ito's syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (c8d8a7f1-b946-50aa-950b-7af3c31d9cea) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	L60.8	TRUE	ALWAYS L60.8	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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