763320005: Craniofaciofrontodigital syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)

\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)

\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\Craniofaciofrontodigital syndrome (disorder)
\Head finding (finding)\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital 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\Craniofaciofrontodigital 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\Craniofaciofrontodigital syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Craniofaciofrontodigital syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Craniofaciofrontodigital syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Craniofaciofrontodigital syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Craniofaciofrontodigital syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Craniofaciofrontodigital syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Craniofaciofrontodigital syndrome (disorder)

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)

\Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital 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\Craniofaciofrontodigital 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\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\Disease\Metabolic disease\Metabolic bone disease (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Craniofaciofrontodigital syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Craniofaciofrontodigital syndrome (disorder)
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Craniofaciofrontodigital syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3638540017 Craniofaciofrontodigital syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3638541018 Craniofaciofrontodigital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3638543015 Cantu craniofaciofrontodigital syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404012017 Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404013010 Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterised by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3638540017 Craniofaciofrontodigital syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3638541018 Craniofaciofrontodigital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3638543015 Cantu craniofaciofrontodigital syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3638542013 A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404012017 Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404013010 Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterised by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3396961001000115 Kranio-fazio-fronto-digitales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

919431000172110 syndrome cranio-facio-fronto-digital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

967481000172116 syndrome cranio-facio-fronto-digital de Cantu fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

919431000172110 syndrome cranio-facio-fronto-digital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

967481000172116 syndrome cranio-facio-fronto-digital de Cantu fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3396961001000115 Kranio-fazio-fronto-digitales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofaciofrontodigital syndrome (disorder)	Is a	Metabolic bone disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Is a	Cutis laxa	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Is a	Dysostosis of bone of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Is a	Congenital anomaly of skin (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Is a	Short stature disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniofaciofrontodigital syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniofaciofrontodigital syndrome (disorder)	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniofaciofrontodigital syndrome (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofaciofrontodigital syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofaciofrontodigital syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniofaciofrontodigital syndrome (disorder)	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofaciofrontodigital syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniofaciofrontodigital syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofaciofrontodigital syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniofaciofrontodigital syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofaciofrontodigital syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniofaciofrontodigital syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniofaciofrontodigital syndrome (disorder)	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Finding site	Connective tissue structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofaciofrontodigital syndrome (disorder)	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Craniofaciofrontodigital syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Craniofaciofrontodigital syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Craniofaciofrontodigital syndrome (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Craniofaciofrontodigital syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7

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
3638540017	Craniofaciofrontodigital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638541018	Craniofaciofrontodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638543015	Cantu craniofaciofrontodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404012017	Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404013010	Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterised by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638540017	Craniofaciofrontodigital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638541018	Craniofaciofrontodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638543015	Cantu craniofaciofrontodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638542013	A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404012017	Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404013010	Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterised by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3396961001000115	Kranio-fazio-fronto-digitales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
919431000172110	syndrome cranio-facio-fronto-digital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967481000172116	syndrome cranio-facio-fronto-digital de Cantu	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
919431000172110	syndrome cranio-facio-fronto-digital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967481000172116	syndrome cranio-facio-fronto-digital de Cantu	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396961001000115	Kranio-fazio-fronto-digitales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module