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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
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
1787862010 Summitt syndrome 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
3454051001000112 Carpenter-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5640121000241114 acrocéphalosyndactylie de type II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5640131000241111 syndrome d'Apert-Crouzon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5640121000241114 acrocéphalosyndactylie de type II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5640131000241111 syndrome d'Apert-Crouzon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454051001000112 Carpenter-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acrocephalopolysyndactyly type II Is a Acrocephalopolysyndactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly type II Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type II Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type II Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly type II Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly type II Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type II Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type II Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Acrocephalopolysyndactyly type III (disorder) Is a False Acrocephalopolysyndactyly type II Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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