Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3499496014 | Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3499497017 | Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3499498010 | Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3499499019 | Westerhof Beemer Cormane syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Is a | Neurocutaneous syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Is a | Congenital pigmentary skin anomalies | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Is a | Genetic disorder of skin pigmentation | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 4 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Finding site | Skin structure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | 3 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 5 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Finding site | Structure of nervous system | false | Inferred relationship | Existential restriction modifier | 5 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Associated morphology | Pigment alteration | false | Inferred relationship | Existential restriction modifier | 3 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Finding site | Skin structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Associated morphology | Pigment alteration | true | Inferred relationship | Existential restriction modifier | 2 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Is a | Congenital anomaly of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Existential restriction modifier | 3 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Associated morphology | Neoplasm | true | Inferred relationship | Existential restriction modifier | 3 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Associated morphology | Neoplasm | true | Inferred relationship | Existential restriction modifier | 4 | |
| Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR