205465004: Chondrodysplasia (disorder)

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

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lethal retarded ossification syndromes (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Multiple exostosis syndromes	Is a	False	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia, unspecified	Is a	False	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyschondroplasia NOS	Is a	False	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal chondrodysplasia with fragmented bone (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactylous dwarfism Mseleni type	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal recessive chondrodysplasia	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia with disorder of sex development syndrome (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondroplasia	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
QRICH1-related intellectual disability, chondrodysplasia syndrome	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315050019	Chondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590835013	Chondrodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315050019	Chondrodysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315050019	Chondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590835013	Chondrodysplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
590835013	Chondrodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4885501000241110	chondrodysplasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4885501000241110	chondrodysplasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module