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726629006: syndrome d'alopécie circonscrite-polydactylie (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1013001000172116 syndrome d'alopécie circonscrite-polydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3451116010 Scalp defect postaxial polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451117018 Scalp defect postaxial polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762261000241112 syndrome d'alopécie circonscrite-polydactylie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3451118011 Syndrome with characteristics of congenital scalp defects and postaxial polydactyly type A. It is an extremely rare condition. The syndrome has variable manifestations with one affected person with both congenital scalp defects and postaxial polydactyly type A, 4 people with scalp defects only and 3 people who had postaxial polydactyly only. Transmission is autosomal dominant. 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
syndrome d'alopécie circonscrite-polydactylie Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome d'alopécie circonscrite-polydactylie morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome d'alopécie circonscrite-polydactylie est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome d'alopécie circonscrite-polydactylie est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
syndrome d'alopécie circonscrite-polydactylie est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
syndrome d'alopécie circonscrite-polydactylie morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
syndrome d'alopécie circonscrite-polydactylie survenue (attribut) congénital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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