205797000: Congenital malformation syndromes affecting facial appearance (disorder)

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

\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Disorder by body site (disorder)\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\Congenital malformation syndromes affecting facial appearance
\Finding by site\Disorder by body site (disorder)\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\Congenital malformation syndromes affecting facial appearance
\Finding by site\Disorder by body site (disorder)\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\Congenital malformation syndromes affecting facial appearance
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\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\Congenital malformation syndromes affecting facial appearance
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\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\Congenital malformation syndromes affecting facial appearance
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Finding by site\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\Congenital malformation syndromes affecting facial appearance

\Disease\Disorder by body site (disorder)\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\Congenital malformation syndromes affecting facial appearance
\Disease\Disorder by body site (disorder)\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\Congenital malformation syndromes affecting facial appearance
\Disease\Disorder by body site (disorder)\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\Congenital malformation syndromes affecting facial appearance
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes affecting facial appearance
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\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\Congenital malformation syndromes affecting facial appearance
\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\Congenital malformation syndromes affecting facial appearance
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes affecting facial appearance
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital malformation syndromes affecting facial appearance
\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\Congenital malformation syndromes affecting facial appearance

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
315586014	Congenital malformation syndromes affecting facial appearance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
591214012	Congenital malformation syndromes affecting facial appearance (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1837571000052114	medfödda missbildningssyndrom som påverkar ansiktets utseende	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation syndromes affecting facial appearance	Is a	Congenital abnormality of skull and face bones	false	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital malformation syndromes affecting facial appearance	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital malformation syndromes affecting facial appearance	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	2
Congenital malformation syndromes affecting facial appearance	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital malformation syndromes affecting facial appearance	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital malformation syndromes affecting facial appearance	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital malformation syndromes affecting facial appearance	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Finding site	Bone structure of face	true	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation syndrome affecting facial appearance NOS	Is a	False	Congenital malformation syndromes affecting facial appearance	Inferred relationship	Some

This concept is not in any reference sets