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720747002: syndrome de Cooks (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
1020381000172112 ODP - onychodystrophy with hypoplasia or absence of distal phalanges fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3321975017 Cooks syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321976016 Cooks syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
756011000241111 syndrome de Cooks (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
874221000172110 syndrome de Cooks fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3321977013 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321978015 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalisation of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. 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
Cooks syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cooks syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cooks syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Cooks syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cooks syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 1
Cooks syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Cooks syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 2
Cooks syndrome (disorder) localisation d'une constatation (attribut) Entire digit true Inferred relationship Some 2
Cooks syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Cooks syndrome (disorder) localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 3
Cooks syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'ongle (trouble) true Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) brachydactylie true Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Cooks syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Cooks syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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