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723451000: syndrome de pili torti-onychodysplasie (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
3424673010 Pili torti onychodysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424674016 Pili torti onychodysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759491000241116 syndrome de pili torti-onychodysplasie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
978791000172116 syndrome de pili torti-onychodysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3424675015 A form of ectodermal dysplasia with characteristics of dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. 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
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) Disorder of hair growth true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure false Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) Skin lesion true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 7
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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