Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3331859010 | Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331860017 | Cutaneous mastocytosis, short stature, hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332202019 | Hennekam Beemer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6708701000146118 | syndroom van cutane mastocytose, dwerggroei en gehoorverlies (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6708711000146116 | syndroom van cutane mastocytose, dwerggroei en gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6708721000146114 | syndroom van cutane mastocytose, kleine gestalte en gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3332203012 | Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | microcefalie | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Conductive hearing loss | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Chronic nervous system disorder (disorder) | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Chronic disease of ear | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Cutaneous mastocytosis (disorder) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Hereditary white blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 3 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 4 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | Cutaneous mastocytosis (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 9 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 9 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Chronic brain syndrome | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | Cutaneous mastocytosis (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | Cutaneous mastocytosis (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | Mast cell abnormality (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Mast cell | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 7 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | Cutaneous mastocytosis (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | Mast cell abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Mast cell | true | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 7 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 5 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Chronic deafness | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Congenital hearing loss (disorder) | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Is a | Disorder of sensory function (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR