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2391001: Achondrogenesis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5094011 Achondrogenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753487013 Achondrogenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
984991000172117 achondrogenèse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416161001000114 Achondrogenesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Achondrogenesis Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Achondrogenesis Finding site Bone structure false Inferred relationship Some 1
Achondrogenesis Finding site Both lower extremities false Inferred relationship Some
Achondrogenesis Occurrence Congenital false Inferred relationship Some
Achondrogenesis Finding site Both upper extremities false Inferred relationship Some
Achondrogenesis Is a Disorder of upper limb (disorder) false Inferred relationship Some
Achondrogenesis Is a Disorder of lower limb false Inferred relationship Some
Achondrogenesis Associated morphology Congenital dysplasia false Inferred relationship Some 1
Achondrogenesis Finding site Skeletal system structure true Inferred relationship Some 1
Achondrogenesis Associated morphology Congenital dysplasia false Inferred relationship Some 1
Achondrogenesis Finding site Bone structure false Inferred relationship Some 1
Achondrogenesis Occurrence Congenital true Inferred relationship Some 2
Achondrogenesis Finding site Bone structure false Inferred relationship Some 2
Achondrogenesis Is a Short stature disorder false Inferred relationship Some
Achondrogenesis Associated morphology Congenital dysplasia false Inferred relationship Some 2
Achondrogenesis Occurrence Congenital false Inferred relationship Some 3
Achondrogenesis Associated morphology Congenital hypoplasia false Inferred relationship Some 3
Achondrogenesis Finding site Bone structure false Inferred relationship Some 3
Achondrogenesis Occurrence Congenital true Inferred relationship Some 1
Achondrogenesis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Achondrogenesis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Achondrogenesis Associated morphology Dysplasia true Inferred relationship Some 1
Achondrogenesis Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Achondrogenesis Associated morphology Hypoplasia true Inferred relationship Some 2
Achondrogenesis Is a Congenital malformation syndromes associated with short stature true Inferred relationship Some
Achondrogenesis Finding site Skeletal system structure true Inferred relationship Some 2
Achondrogenesis Interprets Height / growth measure true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Achondrogenesis, type IB Is a True Achondrogenesis Inferred relationship Some
Achondrogenesis, type IA Is a True Achondrogenesis Inferred relationship Some
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Is a True Achondrogenesis Inferred relationship Some
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Is a False Achondrogenesis Inferred relationship Some
Achondroplasia Is a True Achondrogenesis Inferred relationship Some
Achondrogenesis, type II Is a True Achondrogenesis Inferred relationship Some

This concept is not in any reference sets

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