278715001: Chondrodysplasia punctata (stippled epiphyses) group (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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 body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

415720018 Chondrodysplasia punctata en Synonym Active Entire term case insensitive SNOMED CT core module

415721019 Chondrodysplasia punctata (stippled epiphyses) group en Synonym Active Entire term case insensitive SNOMED CT core module

671906017 Chondrodysplasia punctata (stippled epiphyses) group (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chondrodysplasia punctata, X-linked recessive type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, tibia-metacarpal type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, Conradi-Hünermann type	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Hyperphosphatasia-osteoectasia syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, Conradi-Hünermann type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
X-linked dominant chondrodysplasia punctata of Happle	Is a	False	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata Toriello type	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Lissencephaly type 3 metacarpal bone dysplasia syndrome	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata congenita	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata due to maternal autoimmune disease	Is a	True	Chondrodysplasia punctata	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
415720018	Chondrodysplasia punctata	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
415721019	Chondrodysplasia punctata (stippled epiphyses) group	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
671906017	Chondrodysplasia punctata (stippled epiphyses) group (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module