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719595002: syndrome d'absence de dermatoglyphes-miliaire congénital (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
1010721000172115 syndrome d'absence de dermatoglyphes-miliaire congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3317076011 Absence of fingerprints with congenital milia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317077019 Absence of fingerprints with congenital milia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317078012 Absence of dermatoglyphics with congenital milia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317079016 Baird syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
754511000241114 syndrome d'absence de dermatoglyphes-miliaire congénital (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
874491000172111 syndrome de Baird fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3317080018 This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. 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
Absence of fingerprints with congenital milia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Absence of fingerprints with congenital milia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Absence of fingerprints with congenital milia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Absence of fingerprints with congenital milia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 1
Absence of fingerprints with congenital milia syndrome (disorder) morphologie associée (attribut) Milium true Inferred relationship Some 1
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 2
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) Abnormal dermatoglyphic pattern true Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) Aplasia of skin false Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) grains de milium true Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) Congenital absence false Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) morphologie associée (attribut) Milium false Inferred relationship Some 2
Absence of fingerprints with congenital milia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Absence of fingerprints with congenital milia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Absence of fingerprints with congenital milia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 3
Absence of fingerprints with congenital milia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Absence of fingerprints with congenital milia syndrome (disorder) localisation d'une constatation (attribut) structure de la disposition des dermatoglyphes false Inferred relationship Some 3
Absence of fingerprints with congenital milia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Absence of fingerprints with congenital milia syndrome (disorder) localisation d'une constatation (attribut) structure de la disposition des dermatoglyphes true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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