Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3704197016 | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704198014 | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6742961000146112 | syndroom van microcefalie, kleine gestalte, mentale retardatie en faciale dysmorfie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495561000146110 | syndroom van microcefalie, kleine gestalte, verstandelijke beperking en faciale dysmorfie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7577651000146117 | syndroom van microcefalie, kleine gestalte, verstandelijke beperking en faciale dysmorfie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7577661000146119 | syndroom van microcefalie, kleine gestalte, verstandelijke handicap en faciale dysmorfie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3704199018 | A rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704200015 | A rare genetic malformation syndrome with short stature characterised by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalised oedema, myopia, strabismus, hypothyroidism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | microcefalie | false | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR