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720747002: Cooks-syndroom (aandoening)


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
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
6067151000146117 syndroom van Cooks nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6837221000146111 syndroom van anonychie en onychodystrofie met hypoplasie of aplasie van distale vingerkootjes nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6837231000146113 ODP nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10663121000146115 Cooks-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10663131000146118 Cooks-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) Associated morphology Abnormally short growth true Inferred relationship Some 2
Cooks syndrome (disorder) Finding site Entire digit true Inferred relationship Some 2
Cooks syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Cooks syndrome (disorder) Finding site structuur van unguis (lichaamsstructuur) false Inferred relationship Some 3
Cooks syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Cooks syndrome (disorder) Is a Congenital anomaly of nail true Inferred relationship Some
Cooks syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Cooks syndrome (disorder) Is a Brachydactyly true Inferred relationship Some
Cooks syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Cooks syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cooks syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Cooks syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cooks syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cooks syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Cooks syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cooks syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 1
Cooks syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Cooks syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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