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2391001: Achondrogenesis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal system\Skeletal dysplasia\Achondrogenesis (disorder)

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Achondrogenesis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\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

1972981000005117 akondrogenese da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondrogenesis (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Achondrogenesis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis (disorder)	Finding site	Both lower extremities	false	Inferred relationship	Some
Achondrogenesis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Achondrogenesis (disorder)	Finding site	Both upper extremities	false	Inferred relationship	Some
Achondrogenesis (disorder)	Is a	Disorder of upper limb (disorder)	false	Inferred relationship	Some
Achondrogenesis (disorder)	Is a	Disorder of lower limb	false	Inferred relationship	Some
Achondrogenesis (disorder)	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Achondrogenesis (disorder)	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Achondrogenesis (disorder)	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Achondrogenesis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Achondrogenesis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Achondrogenesis (disorder)	Is a	Short stature disorder	false	Inferred relationship	Some
Achondrogenesis (disorder)	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Achondrogenesis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Achondrogenesis (disorder)	Associated morphology	kongenit hypoplasi	false	Inferred relationship	Some	3
Achondrogenesis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	3
Achondrogenesis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Achondrogenesis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Achondrogenesis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Achondrogenesis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Achondrogenesis (disorder)	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Achondrogenesis (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Achondrogenesis (disorder)	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Achondrogenesis (disorder)	Finding site	Skeletal system structure	true	Inferred relationship	Some	2
Achondrogenesis (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Achondrogenesis, type IB	Is a	True	Achondrogenesis (disorder)	Inferred relationship	Some
Achondrogenesis, type IA	Is a	True	Achondrogenesis (disorder)	Inferred relationship	Some
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 (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Is a	True	Achondrogenesis (disorder)	Inferred relationship	Some
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Is a	False	Achondrogenesis (disorder)	Inferred relationship	Some
Achondroplasia	Is a	True	Achondrogenesis (disorder)	Inferred relationship	Some
Achondrogenesis, type II	Is a	True	Achondrogenesis (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
1972981000005117	akondrogenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)