720419000: Acrofacial dysostosis Catania type (disorder)

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

\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Catania type (disorder)

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

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

\Lesion of face (finding)\Acrofacial dysostosis Catania type (disorder)

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

\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Catania type (disorder)
\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Catania type (disorder)
\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Catania type (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Catania type (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Catania type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Catania type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Catania type (disorder)

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3320702016 Acrofacial dysostosis Catania type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3320703014 Opitz Caltabiano syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3320704015 A very rare type of acrofacialdysostosis with characteristics of mild intrauterine growth retardation, postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3923461000052113 akrofacial dysostos, typ Catania sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrofacial dysostosis Catania type (disorder)	Finding site	Bone structure of face	true	Inferred relationship	Some	2
Acrofacial dysostosis Catania type (disorder)	Finding site	Bone structure of extremity	false	Inferred relationship	Some	3
Acrofacial dysostosis Catania type (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	Dysostosis	true	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Acrofacial dysostosis Catania type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrofacial dysostosis Catania type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Acrofacial dysostosis Catania type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Acrofacial dysostosis Catania type (disorder)	Is a	Lesion of face (finding)	true	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrofacial dysostosis Catania type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrofacial dysostosis Catania type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrofacial dysostosis Catania type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Acrofacial dysostosis Catania type (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Acrofacial dysostosis Catania type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Acrofacial dysostosis Catania type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Acrofacial dysostosis Catania type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3320701011	Acrofacial dysostosis Catania type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320702016	Acrofacial dysostosis Catania type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320703014	Opitz Caltabiano syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320704015	A very rare type of acrofacialdysostosis with characteristics of mild intrauterine growth retardation, postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3923461000052113	akrofacial dysostos, typ Catania	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)