1388451006: Autosomal recessive craniometaphyseal dysplasia (disorder)

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

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

\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 recessive craniometaphyseal dysplasia
\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 recessive craniometaphyseal dysplasia
\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 recessive craniometaphyseal dysplasia
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometaphyseal dysplasia\Autosomal recessive craniometaphyseal dysplasia

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

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

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

6153495016 Autosomal recessive craniometaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6153496015 Autosomal recessive craniometaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
6153495016	Autosomal recessive craniometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6153496015	Autosomal recessive craniometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core