Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
SNOMED CT code
| SNOMED code | 722379001 |
|---|---|
| name | Congenital cataract with hypertrichosis and intellectual disability syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) |
| synonyms |
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| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Lens clear 78076003 |
| Associated morphology | Opacity 128305008 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Hair structure 386045008 |
| Associated morphology | Growth alteration 57697001 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| 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 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Congenital anomaly of integument 38164009 Congenital anomaly of skin 199879009 Congenital anomaly of hair 65033000 Congenital hypertrichosis 56797000 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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