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 |
| 13111521000146111 | syndroom van malformatie van hersenen, afwijking van bewegingsapparaat, faciale dysmorfie en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111531000146113 | syndroom van malformatie van hersenen, afwijking van bewegingsapparaat, faciale dysmorfie en verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111541000146117 | syndroom van malformatie van hersenen, afwijking van tractus locomotorius, faciale dysmorfie en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111551000146119 | syndroom van malformatie van hersenen, afwijking van musculoskeletaal systeem, faciale dysmorfie en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111561000146116 | syndroom van malformatie van hersenen, afwijking van musculoskeletaal stelsel, faciale dysmorfie en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | 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 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR