763320005: Craniofaciofrontodigital syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

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

\Congenital anomaly of skin\Craniofaciofrontodigital syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Craniofaciofrontodigital syndrome

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

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

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofaciofrontodigital syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofaciofrontodigital syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofaciofrontodigital syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Craniofaciofrontodigital syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Craniofaciofrontodigital syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Craniofaciofrontodigital syndrome

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

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Craniofaciofrontodigital syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Craniofaciofrontodigital syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Craniofaciofrontodigital syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Craniofaciofrontodigital syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Craniofaciofrontodigital syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\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 skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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 skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Craniofaciofrontodigital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Craniofaciofrontodigital syndrome

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3638541018 Craniofaciofrontodigital syndrome en Synonym Active Case insensitive SNOMED CT core

3638543015 Cantu craniofaciofrontodigital syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofaciofrontodigital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniofaciofrontodigital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniofaciofrontodigital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Craniofaciofrontodigital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Craniofaciofrontodigital syndrome	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	4
Craniofaciofrontodigital syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Craniofaciofrontodigital syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Craniofaciofrontodigital syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Craniofaciofrontodigital syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Craniofaciofrontodigital syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Craniofaciofrontodigital syndrome	Is a	Metabolic bone disease	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Is a	Cutis laxa	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Is a	Dysostosis of bone of skull	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Craniofaciofrontodigital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniofaciofrontodigital syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Craniofaciofrontodigital syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Craniofaciofrontodigital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniofaciofrontodigital syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Craniofaciofrontodigital syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Craniofaciofrontodigital syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3638540017	Craniofaciofrontodigital syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638541018	Craniofaciofrontodigital syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638543015	Cantu craniofaciofrontodigital syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core