Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
SNOMED CT code
| SNOMED code | 1172629005 |
|---|---|
| name | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder) |
| synonyms | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
| 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 - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Scleral structure 18619003 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skin structure 39937001 |
| Associated morphology | Blue nevus 63166000 |
| attributes - group2 | |
| Finding site | Skin structure 39937001 |
| Associated morphology | Hyperpigmentation 4830009 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| 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 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Sclera and episclera finding 246973008 Disorder of sclera 33064008 Congenital anomaly of sclera 32809005 Abnormal blue sclerae 204164000 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Mongolian spot 40467008 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of pigmentation 414032001 Disorder of skin pigmentation 46690002 Hyperpigmentation of skin 49765009 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Genetic disorder of skin pigmentation 724839001 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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