715631005: Chondrodysplasia punctata Toriello type (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3303236018 Chondrodysplasia punctata Toriello type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3303237010 Chondrodysplasia punctata Toriello type en Synonym Active Only initial character case insensitive SNOMED CT core module

3303238017 Toriello Higgins Miller syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

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
3303236018	Chondrodysplasia punctata Toriello type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3303237010	Chondrodysplasia punctata Toriello type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3303238017	Toriello Higgins Miller syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module