205506004: Craniodiaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Craniodiaphyseal dysplasia

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Craniodiaphyseal dysplasia

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniodiaphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniodiaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniodiaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniodiaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniodiaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniodiaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\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\Craniodiaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniodiaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniodiaphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Craniodiaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Craniodiaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniodiaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniodiaphyseal dysplasia

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

315143015 Craniodiaphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

315144014 CDD - Craniodiaphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

590883011 Craniodiaphyseal dysplasia (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
Craniodiaphyseal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Craniodiaphyseal dysplasia	Is a	Dysplasia with increased bone density	true	Inferred relationship	Existential restriction modifier
Craniodiaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Craniodiaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Craniodiaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Craniodiaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Craniodiaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Craniodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Craniodiaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier	2
Craniodiaphyseal dysplasia	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	2
Craniodiaphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Craniodiaphyseal dysplasia	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
315143015	Craniodiaphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
315144014	CDD - Craniodiaphyseal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
590883011	Craniodiaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module