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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
5094011 Achondrogenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3416161001000114 Achondrogenesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984991000172117 achondrogenèse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Finding site Both lower extremities false Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Finding site Both upper extremities false Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Is a Disorder of upper limb (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Is a Disorder of lower limb false Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis Is a Short stature disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondrogenesis Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondrogenesis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondrogenesis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis Is a Congenital malformation syndromes associated with short stature true Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Achondrogenesis, type IB Is a True Achondrogenesis Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis, type IA Is a True Achondrogenesis Inferred relationship Existential restriction modifier (core metadata concept)
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Is a True Achondrogenesis Inferred relationship Existential restriction modifier (core metadata concept)
Jeune thoracic dystrophy (disorder) Is a False Achondrogenesis Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a True Achondrogenesis Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis, type II (disorder) Is a True Achondrogenesis Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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