NDE1-related microhydranencephaly 1237462006
SNOMED CT code
| SNOMED code | 1237462006 |
|---|---|
| name | NDE1-related microhydranencephaly |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | nudE neurodevelopment protein 1-related microhydranencephaly (disorder) |
| synonyms |
|
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Birth head circumference 169876006 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Head structure 69536005 |
| Associated morphology | Congenital smallness 41086002 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebral hemisphere structure 372073000 |
| Associated morphology | Absence 418560003 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 NDE1-related microhydranencephaly 1237462006 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 NDE1-related microhydranencephaly 1237462006 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Disorder of neuronal migration and differentiation 253146009 Hydranencephaly 30023002 NDE1-related microhydranencephaly 1237462006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 NDE1-related microhydranencephaly 1237462006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 NDE1-related microhydranencephaly 1237462006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 NDE1-related microhydranencephaly 1237462006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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