278715001: chondrodysplasia punctata (aandoening)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata
\Disease\Developmental 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	Some
Chondrodysplasia punctata	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Some
Chondrodysplasia punctata	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia punctata	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Chondrodysplasia punctata	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia punctata	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chondrodysplasia punctata, X-linked recessive type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata, MT type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
syndroom van lymfopenische agammaglobulinemie en dwerggroei met korte extremiteiten	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Hyperphosphatasia-osteoectasia syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata, X-linked dominant type (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
X-gebonden dominante chondrodysplasia punctata type 2 (aandoening)	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata congenita	Is a	False	Chondrodysplasia punctata	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some
Chondrodysplasia punctata due to maternal autoimmune disease (disorder)	Is a	True	Chondrodysplasia punctata	Inferred relationship	Some

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
9775061000146111	chondrodysplasia punctata (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9775071000146117	chondrodysplasia punctata	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9775081000146115	dyschondroplasia punctata	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)