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771338002: foramen pariétal avechypoplasie claviculaire (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1009461000172110 foramen pariétal avechypoplasie claviculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3705815019 Parietal foramina with clavicular hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705816018 Parietal foramina with clavicular hypoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705817010 Parietal foramina with cleidocranial dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
770621000241112 foramen pariétal avechypoplasie claviculaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
912071000172111 foramen pariétal avec dysplasie cléido-crânienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3705818017 A rare genetic bone development disorder with characteristics of parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. There is evidence the disease is caused by heterozygous mutation in the MSX2 gene on chromosome 5q35. 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
foramen pariétal avechypoplasie claviculaire localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 1
foramen pariétal avechypoplasie claviculaire morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
foramen pariétal avechypoplasie claviculaire localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 3
foramen pariétal avechypoplasie claviculaire localisation d'une constatation (attribut) clavicule true Inferred relationship Some 2
foramen pariétal avechypoplasie claviculaire morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
foramen pariétal avechypoplasie claviculaire Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
foramen pariétal avechypoplasie claviculaire Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
foramen pariétal avechypoplasie claviculaire Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
foramen pariétal avechypoplasie claviculaire morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
foramen pariétal avechypoplasie claviculaire morphologie associée (attribut) dysplasie true Inferred relationship Some 3
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
foramen pariétal avechypoplasie claviculaire survenue (attribut) congénital true Inferred relationship Some 1
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) Craniolacunia true Inferred relationship Some
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
foramen pariétal avechypoplasie claviculaire survenue (attribut) congénital true Inferred relationship Some 3
foramen pariétal avechypoplasie claviculaire survenue (attribut) congénital true Inferred relationship Some 2
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) Congenital hypoplasia of clavicle true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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