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720747002: Cooks syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3321976016 Cooks syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cooks syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Cooks syndrome Occurrence Congenital true Inferred relationship Some 1
Cooks syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Cooks syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Cooks syndrome Finding site Nail unit structure true Inferred relationship Some 1
Cooks syndrome Is a Genetic disorder of nail true Inferred relationship Some
Cooks syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Cooks syndrome Associated morphology Abnormally short growth true Inferred relationship Some 2
Cooks syndrome Finding site Entire digit true Inferred relationship Some 2
Cooks syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Cooks syndrome Finding site Nail structure false Inferred relationship Some 3
Cooks syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Cooks syndrome Is a Congenital anomaly of nail true Inferred relationship Some
Cooks syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Cooks syndrome Is a Brachydactyly true Inferred relationship Some
Cooks syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Cooks syndrome Occurrence Congenital true Inferred relationship Some 2
Cooks syndrome Occurrence Congenital false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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