715631005: Chondrodysplasia punctata Toriello 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 Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello 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 Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia punctata Toriello type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondrodysplasia punctata Toriello type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia punctata Toriello type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
3303236018	Chondrodysplasia punctata Toriello type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303237010	Chondrodysplasia punctata Toriello type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303238017	Toriello Higgins Miller syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303239013	Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
894181000172110	chondrodysplasie ponctuée type Toriello	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
912001000172115	syndrome de Toriello-Higgins-Miller	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
935601000172114	syndroom van Toriello-Higgins-Miller	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
966881000172116	chondrodysplasia punctata, Toriello-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)