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719688002: dysplasie épiphysaire multiple type Al-Gazali (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
1013271000172116 dysplasie épiphysaire multiple type Al-Gazali fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3317493019 Multiple epiphyseal dysplasia Al-Gazali type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317494013 Multiple epiphyseal dysplasia Al-Gazali type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317495014 Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754781000241114 dysplasie épiphysaire multiple type Al-Gazali (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
887571000172112 syndrome de dysplasie épiphysaire multiple, macrocéphalie, faciès particulier fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3317496010 A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner. 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
dysplasie épiphysaire multiple type Al-Gazali Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
dysplasie épiphysaire multiple type Al-Gazali localisation d'une constatation (attribut) Structure of epiphysis true Inferred relationship Some 1
dysplasie épiphysaire multiple type Al-Gazali survenue (attribut) congénital true Inferred relationship Some 1
dysplasie épiphysaire multiple type Al-Gazali morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
dysplasie épiphysaire multiple type Al-Gazali morphologie associée (attribut) dysplasie true Inferred relationship Some 1
dysplasie épiphysaire multiple type Al-Gazali évolution clinique (attribut) progressif true Inferred relationship Some 2
dysplasie épiphysaire multiple type Al-Gazali interprète (attribut) Height / growth measure true Inferred relationship Some 3
dysplasie épiphysaire multiple type Al-Gazali est un(e) (attribut) dysplasie épiphysaire multiple true Inferred relationship Some
dysplasie épiphysaire multiple type Al-Gazali est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
dysplasie épiphysaire multiple type Al-Gazali morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
dysplasie épiphysaire multiple type Al-Gazali survenue (attribut) congénital false Inferred relationship Some 2
dysplasie épiphysaire multiple type Al-Gazali localisation d'une constatation (attribut) Structure of epiphysis false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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