254082007: Chondrodysplasia punctata, X-linked recessive 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, X-linked recessive type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\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, X-linked recessive type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked recessive type
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\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, X-linked recessive type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type

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, X-linked recessive type	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Occurrence	Congenital	false	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Finding site	Bone structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378235019	Chondrodysplasia punctata, X-linked recessive type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644924011	Chondrodysplasia punctata, X-linked recessive type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5518151000172114	chondrodysplasie ponctuée de type récessive liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5518161000172111	X-gebonden recessieve dyschondroplasia punctata	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5518171000172119	X-gebonden recessieve chondrodysplasia punctata	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)