Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1771693010 | Acrocephalopolysyndactyly type II (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
1782777015 | Acrocephalopolysyndactyly type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3494870015 | Carpenter syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3494871016 | Acrocephalopolysyndactyly type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499894017 | A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Acrocephalopolysyndactyly type III (disorder) | Is a | False | Acrocephalopolysyndactyly type II (disorder) | Inferred relationship | Some |
This concept is not in any reference sets