716022002: Frontofacionasal dysplasia syndrome (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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 skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Frontofacionasal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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 skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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 skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\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 skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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 skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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 skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\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\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontofacionasal dysplasia syndrome (disorder)
\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\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (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 skull\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontofacionasal dysplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304461012 Frontofacionasal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304462017 Frontofacionasal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304463010 Gollop syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304464016 Fronto-facio-nasal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5401206016 A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401207013 A rare genetic disease characterised by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frontofacionasal dysplasia syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Frontofacionasal dysplasia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Frontofacionasal dysplasia syndrome (disorder)	Is a	Dysostosis of bone of skull	true	Inferred relationship	Some
Frontofacionasal dysplasia syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Frontofacionasal dysplasia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Finding site	Bone structure of cranium	true	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Frontofacionasal dysplasia syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some	3
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Frontofacionasal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Frontofacionasal dysplasia syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Frontofacionasal dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Frontofacionasal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304461012	Frontofacionasal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304462017	Frontofacionasal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304463010	Gollop syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304464016	Fronto-facio-nasal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401206016	A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401207013	A rare genetic disease characterised by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core