Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3331755010 | Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3331756011 | Congenital cataract with hypertrichosis and intellectual disability syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3331757019 | CAHMR syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3331758012 | CAHMR (cataract, hypertrichosis, mental retardation) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Congenital hypertrichosis | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Congenital cataract | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Finding site | Hair structure | false | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Associated morphology | Congenital cataract | false | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Finding site | Structure of lens of eye | false | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Finding site | Hair structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Associated morphology | Cataract | false | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Associated morphology | Growth alteration | false | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Associated morphology | Growth alteration | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital cataract with hypertrichosis and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR