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Terminology chevron_right Concepts chevron_right 722375007

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Component

722375007

The component that hold information about this concept.

Fully Specified Name (FSN)

Bamforth lazarus syndrome (disorder)

Shortest Term

Bamforth lazarus syndrome

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

Bamforth lazarus syndrome (disorder)

SCTID: 722375007, Primitive, Active

722375007|Bamforth lazarus syndrome (disorder)|

en Athyroidal hypothyroidism with spiky hair and cleft palate syndrome
en Hypothyroidism and cleft palate syndrome
en Bamforth lazarus syndrome
en Bamforth lazarus syndrome (disorder)

Expression

722375007 |Bamforth lazarus syndrome (disorder)|
 <<< 32454003 |Congenital anomaly of the thyroid gland (disorder)| + 
65033000 |Congenital anomaly of hair (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
87979003 |Cleft palate (disorder)| + 
190268003 |Congenital hypothyroidism (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72914001 |Palatal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 386045008 |Hair structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 69748006 |Thyroid structure (body structure)|,
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
3331737018 - Athyroidal hypothyroidism with spiky hair and cleft palate syndrome (en) View
3331737018	en	Synonym (core metadata concept)	Athyroidal hypothyroidism with spiky hair and cleft palate syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3331738011 - Hypothyroidism and cleft palate syndrome (en) View
3331738011	en	Synonym (core metadata concept)	Hypothyroidism and cleft palate syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3331736010 - Bamforth Lazarus syndrome (en) View
3331736010	en	Synonym (core metadata concept)	Bamforth Lazarus syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3331735014 - Bamforth Lazarus syndrome (disorder) (en) View
3331735014	en	Fully specified name (core metadata concept)	Bamforth Lazarus syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6778972022) - 722375007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13054322026) - 722375007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13054323020) - 722375007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13054324025) - 722375007 -> 272679001 (363698007) View
363698007 \|Finding site (attribute)\|	272679001 \|Bone structure of head (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13054325029) - 722375007 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069383022) - 722375007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778965021) - 722375007 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778969026) - 722375007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778971026) - 722375007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778974023) - 722375007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778975024) - 722375007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6781909027) - 722375007 -> 69748006 (363698007) View
363698007 \|Finding site (attribute)\|	69748006 \|Thyroid structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6781912029) - 722375007 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6782438021) - 722375007 -> 69748006 (363698007) View
363698007 \|Finding site (attribute)\|	69748006 \|Thyroid structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517070024) - 722375007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517071023) - 722375007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517072027) - 722375007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517073021) - 722375007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517074026) - 722375007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517075025) - 722375007 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517076029) - 722375007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778968023) - 722375007 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778970025) - 722375007 -> 72914001 (363698007) View
363698007 \|Finding site (attribute)\|	72914001 \|Palatal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6940235027) - 722375007 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940236026) - 722375007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940237024) - 722375007 -> 72914001 (363698007) View
363698007 \|Finding site (attribute)\|	72914001 \|Palatal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778959021) - 722375007 -> 32454003 (116680003) View
116680003 \|Is a (attribute)\|	32454003 \|Congenital anomaly of the thyroid gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778960027) - 722375007 -> 65033000 (116680003) View
116680003 \|Is a (attribute)\|	65033000 \|Congenital anomaly of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778961028) - 722375007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778962024) - 722375007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778963025) - 722375007 -> 87979003 (116680003) View
116680003 \|Is a (attribute)\|	87979003 \|Cleft palate (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778964020) - 722375007 -> 190268003 (116680003) View
116680003 \|Is a (attribute)\|	190268003 \|Congenital hypothyroidism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778966022) - 722375007 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778967029) - 722375007 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
190268003 View
190268003	Congenital hypothyroidism (disorder)	Congenital hypothyroidism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
32454003 View
32454003	Congenital anomaly of the thyroid gland (disorder)	Congenital anomaly of the thyroid gland	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65033000 View
65033000	Congenital anomaly of hair (disorder)	Congenital anomaly of hair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
87979003 View
87979003	Cleft palate (disorder)	Hở hàm ếch	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (4212dacc-31cd-574e-994b-cf910a059e9f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q35.9	TRUE	ALWAYS Q35.9	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)\|
ExtendedMap object (8ec18062-7272-5213-8b5d-9f3503dbcb9e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E03.1	TRUE	ALWAYS E03.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|
ExtendedMap object (e3edaf5b-3e5d-50fc-ab2f-4e9b1c4a7cb1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q84.2	TRUE	ALWAYS Q84.2	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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