398719004: Chondrodysplasia punctata, Conradi-Hünermann type (disorder)

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\Chondrodysplasia punctata, Conradi-Hünermann type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, Conradi-Hünermann type (disorder)
\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\Chondrodysplasia punctata, Conradi-Hünermann type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, Conradi-Hünermann type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, Conradi-Hünermann type (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1

Inbound Relationships

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Source

Characteristic

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Group

Reference Sets

Description inactivation indicator reference set

GB English

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Id	Description	Lang	Type	Status	Case?	Module
1766638019	Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1778234016	Chondrodysplasia punctata, Conradi-Hünermann type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786539010	Conradi's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786540012	Conradi disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786541011	Conradi-Hunermann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786542016	Chondrodysplasia calcificans congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786543014	Chondrodysplasia punctata, Conradi-Hunermann type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786544015	Conradi-Hünermann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core