278715001: Chondrodysplasia punctata (stippled epiphyses) group (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 punctata
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\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 punctata
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata

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

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 punctata	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia punctata	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia punctata	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chondrodysplasia punctata, X-linked recessive type (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, MT type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, Conradi-Hünermann type	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasia-osteoectasia syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, Conradi-Hünermann type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked dominant type (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia punctata of Happle	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterised by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
chondrodysplasie ponctuée congénitale	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata due to maternal autoimmune disease (disorder)	Is a	True	Chondrodysplasia punctata	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
415720018	Chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
415721019	Chondrodysplasia punctata (stippled epiphyses) group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
671906017	Chondrodysplasia punctata (stippled epiphyses) group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
415720018	Chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
415720018	Chondrodysplasia punctata	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
415721019	Chondrodysplasia punctata (stippled epiphyses) group	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
415721019	Chondrodysplasia punctata (stippled epiphyses) group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
671906017	Chondrodysplasia punctata (stippled epiphyses) group (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
671906017	Chondrodysplasia punctata (stippled epiphyses) group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5130461000241112	chondrodysplasie ponctuée (épiphyses pointillées) groupe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5130461000241112	chondrodysplasie ponctuée (épiphyses pointillées) groupe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module