Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3330097017 | Intellectual disability with cataract and kyphosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330098010 | Intellectual disability with cataract and kyphosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6941971000146118 | syndroom van mentale retardatie, cataract en kyfose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495871000146119 | syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7576031000146119 | syndroom van verstandelijke handicap, cataract en kyfose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7576041000146110 | syndroom van verstandelijke beperking, cataract en kyfose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3330096014 | This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Congenital kyphosis | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Congenital cataract | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Hereditary disorder of the visual system (disorder) | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Associated morphology | congenitaal cataract | false | Inferred relationship | Some | 3 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Finding site | Lens clear | false | Inferred relationship | Some | 3 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Associated morphology | Abnormal curvature | false | Inferred relationship | Some | 4 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Finding site | Musculoskeletal structure of spine | false | Inferred relationship | Some | 4 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Congenital anomaly of musculoskeletal system | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Finding site | Lens clear | false | Inferred relationship | Some | 1 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Finding site | Musculoskeletal structure of spine | false | Inferred relationship | Some | 2 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Congenital anomaly of vertebral region of back | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Associated morphology | Abnormal curvature | false | Inferred relationship | Some | 2 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Associated morphology | cataract | false | Inferred relationship | Some | 1 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Associated morphology | Opacity | false | Inferred relationship | Some | 1 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Congenital deformity of spine | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Interprets | Intellectual ability (observable entity) | false | Inferred relationship | Some | 3 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Has interpretation | Impaired | false | Inferred relationship | Some | 3 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Interprets | Adaptation behavior (observable entity) | false | Inferred relationship | Some | 4 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Has interpretation | Impaired | false | Inferred relationship | Some | 4 | |
| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) | Associated morphology | Anteroposterior abnormal curvature (morphologic abnormality) | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR