86268005: Achondroplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Achondroplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Achondroplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Achondroplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Achondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

143065010 Achondroplasia en Synonym Active Entire term case insensitive SNOMED CT core module

143066011 Chondrodystrophia fetalis en Synonym Active Entire term case insensitive SNOMED CT core module

143067019 Achondroplastic dwarf en Synonym Active Entire term case insensitive SNOMED CT core module

143069016 Osteosclerosis congenita en Synonym Active Entire term case insensitive SNOMED CT core module

143070015 Congenital osteosclerosis en Synonym Active Entire term case insensitive SNOMED CT core module

507012010 Achondroplastic dwarfism en Synonym Active Entire term case insensitive SNOMED CT core module

828495014 Achondroplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondroplasia	Is a	Dwarfism	false	Inferred relationship	Existential restriction modifier
Achondroplasia	Is a	Defects of the tubular (and flat) bones and/or axial skeleton	false	Inferred relationship	Existential restriction modifier
Achondroplasia	Is a	Achondrogenesis	true	Inferred relationship	Existential restriction modifier
Achondroplasia	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Achondroplasia	Finding site	Both upper extremities	false	Inferred relationship	Existential restriction modifier
Achondroplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier	1
Achondroplasia	Finding site	Both lower extremities	false	Inferred relationship	Existential restriction modifier
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Achondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Associated morphology	Growth alteration	false	Inferred relationship	Existential restriction modifier	1
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Is a	Disorder of epiphysis	true	Inferred relationship	Existential restriction modifier
Achondroplasia	Is a	Short stature disorder	false	Inferred relationship	Existential restriction modifier
Achondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier	1
Achondroplasia	Associated morphology	Growth alteration	false	Inferred relationship	Existential restriction modifier	1
Achondroplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Achondroplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Achondroplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	5
Achondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Achondroplasia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier	5
Achondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Achondroplasia	Associated morphology	Growth alteration	false	Inferred relationship	Existential restriction modifier	3
Achondroplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier	3
Achondroplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Achondroplasia	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Achondroplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Achondroplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Achondroplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Achondroplasia	Is a	Chondrodysplasia	true	Inferred relationship	Existential restriction modifier
Achondroplasia	Finding site	Structure of epiphysis	true	Inferred relationship	Existential restriction modifier	2
Achondroplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Achondroplasia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	False	Achondroplasia	Inferred relationship	Existential restriction modifier
Family history of achondroplasia	Associated finding	True	Achondroplasia	Inferred relationship	Existential restriction modifier	1
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	False	Achondroplasia	Inferred relationship	Existential restriction modifier
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	True	Achondroplasia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
143065010	Achondroplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
143066011	Chondrodystrophia fetalis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
143067019	Achondroplastic dwarf	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
143069016	Osteosclerosis congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
143070015	Congenital osteosclerosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
507012010	Achondroplastic dwarfism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
828495014	Achondroplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module