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403767009: Acrocephalopolysyndactyly type II (disorder)


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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acrocephalopolysyndactyly type II (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrocephalopolysyndactyly type II (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 1
Acrocephalopolysyndactyly type II (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
Acrocephalopolysyndactyly type II (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 3
Acrocephalopolysyndactyly type II (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Acrocephalopolysyndactyly type II (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) Acrocephalopolysyndactyly true Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Acrocephalopolysyndactyly type II (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Acrocephalopolysyndactyly type II (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Acrocephalopolysyndactyly type II (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Acrocephalopolysyndactyly type II (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 2
Acrocephalopolysyndactyly type II (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull true Inferred relationship Some 2
Acrocephalopolysyndactyly type II (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 2
Acrocephalopolysyndactyly type II (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 2
Acrocephalopolysyndactyly type II (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 3
Acrocephalopolysyndactyly type II (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull false Inferred relationship Some 3
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Acrocephalopolysyndactyly type III (disorder) est un(e) (attribut) False Acrocephalopolysyndactyly type II (disorder) Inferred relationship Some

This concept is not in any reference sets

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