1388452004: Autosomal dominant craniometaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry outside reference range (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry outside reference range (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)

\Musculoskeletal finding\Bone finding (finding)\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Bone finding (finding)\Bone densimetry outside reference range (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Bone finding (finding)\Disorder of bone (disorder)\Lesion of bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Bone finding (finding)\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Bone finding (finding)\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (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\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (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\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Craniometaphyseal dysplasia\Autosomal dominant craniometaphyseal dysplasia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

6153497012 Autosomal dominant craniometaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6153498019 Autosomal dominant craniometaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant craniometaphyseal dysplasia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant craniometaphyseal dysplasia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal dominant craniometaphyseal dysplasia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant craniometaphyseal dysplasia (disorder)	Is a	Craniometaphyseal dysplasia	true	Inferred relationship	Some
Autosomal dominant craniometaphyseal dysplasia (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	3
Autosomal dominant craniometaphyseal dysplasia (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Autosomal dominant craniometaphyseal dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant craniometaphyseal dysplasia (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Autosomal dominant craniometaphyseal dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant craniometaphyseal dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant craniometaphyseal dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant craniometaphyseal dysplasia (disorder)	Finding site	Head structure	true	Inferred relationship	Some	2
Autosomal dominant craniometaphyseal dysplasia (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Autosomal dominant craniometaphyseal dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

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
6153497012	Autosomal dominant craniometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6153498019	Autosomal dominant craniometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core