Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4607740010 | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4607741014 | Zhu Tokita Takenouchi Kim syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4607742019 | ZTTK syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4607743012 | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4607744018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres. Musculoskeletal abnormalities include hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity. Ocular involvement includes strabismus, hypermetropia and cortical visual impairment. Hypotonia may also be associated. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. The disorder is due to a heterozygous de novo SON mutation (21q22.11), which encodes for a protein required for proper RNA splicing. Whilst the disease is autosomal dominant, all reported cases have occurred sporadically. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR