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 |
| 5402944016 | A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402945015 | A rare multiple congenital anomalies syndrome characterised by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. | 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 | Microcephalus | 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 | Functional observable | 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 | Congenital smallness | 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 | Congenital smallness | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR