720419000: Acrofacial dysostosis Catania type (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\Acrofacial dysostosis Catania type

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

\Finding of head region\Finding of face\...

\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type

\Disorder of face\Lesion of face\Acrofacial dysostosis Catania type
\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\Acrofacial dysostosis Catania type
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type

\Disorder of head\Disorder of face\Lesion of face\Acrofacial dysostosis Catania type
\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\Acrofacial dysostosis Catania type
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
\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\Acrofacial dysostosis Catania type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Catania type

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
\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 face bones\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
\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 face bones\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
\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 face bones\Acrofacial dysostosis Catania type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type

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

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

3320701011 Acrofacial dysostosis Catania type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3320702016 Acrofacial dysostosis Catania type en Synonym Active Only initial character case insensitive SNOMED CT core module

3320703014 Opitz Caltabiano syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrofacial dysostosis Catania type	Finding site	Bone structure of face	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Catania type	Finding site	Bone structure of extremity	false	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Catania type	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Catania type	Is a	Congenital anomaly of face bones	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Catania type	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Catania type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Catania type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Catania type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Catania type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Catania type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Catania type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Catania type	Is a	Lesion of face	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Catania type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Catania type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Catania type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Catania type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Catania type	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Catania type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Catania type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Catania type	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
3320701011	Acrofacial dysostosis Catania type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3320702016	Acrofacial dysostosis Catania type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3320703014	Opitz Caltabiano syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module