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771338002: Parietal foramina with clavicular hypoplasia (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705815019 Parietal foramina with clavicular hypoplasia en Synonym Active Case insensitive SNOMED CT core
3705816018 Parietal foramina with clavicular hypoplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3705817010 Parietal foramina with cleidocranial dysplasia en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Parietal foramina with clavicular hypoplasia Finding site Bone structure of cranium true Inferred relationship Some 1
Parietal foramina with clavicular hypoplasia Associated morphology Congenital dysplasia false Inferred relationship Some 3
Parietal foramina with clavicular hypoplasia Finding site Bone structure true Inferred relationship Some 3
Parietal foramina with clavicular hypoplasia Finding site Bone structure of clavicle true Inferred relationship Some 2
Parietal foramina with clavicular hypoplasia Associated morphology Hypoplasia true Inferred relationship Some 2
Parietal foramina with clavicular hypoplasia Pathological process Pathological developmental process true Inferred relationship Some 2
Parietal foramina with clavicular hypoplasia Pathological process Pathological developmental process true Inferred relationship Some 3
Parietal foramina with clavicular hypoplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Parietal foramina with clavicular hypoplasia Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Parietal foramina with clavicular hypoplasia Associated morphology Dysplasia true Inferred relationship Some 3
Parietal foramina with clavicular hypoplasia Is a Developmental hereditary disorder true Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Parietal foramina with clavicular hypoplasia Occurrence Congenital true Inferred relationship Some 1
Parietal foramina with clavicular hypoplasia Is a Craniolacunia true Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a Congenital skeletal dysplasia true Inferred relationship Some
Parietal foramina with clavicular hypoplasia Occurrence Congenital true Inferred relationship Some 3
Parietal foramina with clavicular hypoplasia Occurrence Congenital true Inferred relationship Some 2
Parietal foramina with clavicular hypoplasia Is a Congenital hypoplasia of clavicle true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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