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 |
| 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) | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR