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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720494009
http://purl.bioontology.org/ontology/SNOMEDCT/720494009
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|---|---|
| Preferred Name | Anonychia with microcephaly syndrome |
| Definitions |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth.
A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive.
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth.
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| Synonyms |
Anonychia with microcephaly syndrome (disorder)
Teebi Kaurah syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive. A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
|---|---|
| prefLabel | Anonychia with microcephaly syndrome
|
| altLabel |
Anonychia with microcephaly syndrome (disorder)
Teebi Kaurah syndrome
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20170131
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| cui | C2931373
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| Has pathological process | |
| CTV3ID | XUuET
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| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 720494009
|
| type | |
| subClassOf |
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| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
900000000000497000~MAPTARGET~XUuET
6011000124106~MAPTARGET~Q02
6011000124106~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q84.3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q84.3
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| Delete | Subject | Author | Type | Created |
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| No notes to display |