Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3316196013 | Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316197016 | Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316203018 | Microcephaly and intellectual disability with phalangeal and neurological anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316204012 | Woods Crouchman Huson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3316205013 | This syndrome has characteristics of microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). Hypotonia, pre and postnatal growth retardation, a characteristic face (broad forehead with a low frontal hair line, a broad nasal bridge and prominent columella, hypoplastic alae nasi, short philtrum, and a straight mouth with thin lips and downward slanting palpebral fissures) and optic atrophy were also reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 2 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 3 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Digit structure | false | Inferred relationship | Some | 2 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial-limb defects as major feature | false | Inferred relationship | Some | ||
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of digit (disorder) | false | Inferred relationship | Some | ||
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Digit structure | false | Inferred relationship | Some | 4 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 3 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 5 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 5 | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) | est un(e) (attribut) | Intellectual disability | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR