720418008: Acrocraniofacial dysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis

\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\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocraniofacial dysostosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrocraniofacial dysostosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\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\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3320697013 Acrocraniofacial dysostosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3320698015 Acrocraniofacial dysostosis en Synonym Active Entire term case insensitive SNOMED CT core module

3320699011 Kaplan Plauchu Fitch syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocraniofacial dysostosis	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Acrocraniofacial dysostosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Acrocraniofacial dysostosis	Is a	Dysostosis of bone of skull	true	Inferred relationship	Existential restriction modifier
Acrocraniofacial dysostosis	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Acrocraniofacial dysostosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Acrocraniofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Acrocraniofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Acrocraniofacial dysostosis	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	3
Acrocraniofacial dysostosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Acrocraniofacial dysostosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Acrocraniofacial dysostosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Acrocraniofacial dysostosis	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Acrocraniofacial dysostosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Acrocraniofacial dysostosis	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	3
Acrocraniofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Acrocraniofacial dysostosis	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	4
Acrocraniofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Acrocraniofacial dysostosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Acrocraniofacial dysostosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Acrocraniofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Acrocraniofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Acrocraniofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Acrocraniofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Acrocraniofacial dysostosis	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Acrocraniofacial dysostosis	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	1
Acrocraniofacial dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Acrocraniofacial dysostosis	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
3320697013	Acrocraniofacial dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3320698015	Acrocraniofacial dysostosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3320699011	Kaplan Plauchu Fitch syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module