773622005: Craniofacial dysplasia osteopenia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteopenia\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteopenia\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia osteopenia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniofacial dysplasia osteopenia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniofacial dysplasia osteopenia syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Craniofacial dysplasia osteopenia syndrome
\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\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteopenia\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniofacial dysplasia osteopenia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dysplasia osteopenia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial dysplasia osteopenia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3724853014 Craniofacial dysplasia osteopenia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3724854015 Hamamy syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3724855019 Craniofacial dysplasia osteopenia syndrome (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
Craniofacial dysplasia osteopenia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Craniofacial dysplasia osteopenia syndrome	Associated morphology	Osteopenia	true	Inferred relationship	Existential restriction modifier	3
Craniofacial dysplasia osteopenia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome	Is a	Osteopenia	true	Inferred relationship	Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome	Is a	Congenital anomaly of skull	true	Inferred relationship	Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Craniofacial dysplasia osteopenia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Craniofacial dysplasia osteopenia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Craniofacial dysplasia osteopenia syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	2
Craniofacial dysplasia osteopenia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Craniofacial dysplasia osteopenia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Craniofacial dysplasia osteopenia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Craniofacial dysplasia osteopenia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Craniofacial dysplasia osteopenia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome	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
3724853014	Craniofacial dysplasia osteopenia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3724854015	Hamamy syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3724855019	Craniofacial dysplasia osteopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module