734173003: Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality 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\Inherited cutis laxa\SCARF syndrome

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF 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\SCARF syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome

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

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\SCARF syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\SCARF syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\SCARF syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\SCARF syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\SCARF syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\SCARF syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Inherited cutis laxa\SCARF syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\SCARF syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\SCARF syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\SCARF syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\SCARF syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\SCARF 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\Inherited cutis laxa\SCARF syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\SCARF syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\SCARF syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\SCARF syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Inherited cutis laxa\SCARF syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\SCARF syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\SCARF syndrome
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\SCARF syndrome
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\SCARF syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\SCARF syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF 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\Inherited cutis laxa\SCARF syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\SCARF syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\SCARF syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\SCARF syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3489209014 SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome en Synonym Active Case sensitive SNOMED CT core

3489210016 SCARF syndrome en Synonym Active Case sensitive SNOMED CT core

3489211017 Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome en Synonym Active Case insensitive SNOMED CT core

3489213019 Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3489212012 Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
SCARF syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
SCARF syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
SCARF syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
SCARF syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
SCARF syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
SCARF syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
SCARF syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
SCARF syndrome	Finding site	External genitalia structure	true	Inferred relationship	Some	2
SCARF syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
SCARF syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
SCARF syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
SCARF syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
SCARF syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
SCARF syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	4
SCARF syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	4
SCARF syndrome	Finding site	Connective tissue structure	false	Inferred relationship	Some
SCARF syndrome	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
SCARF syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	5
SCARF syndrome	Is a	Inherited cutis laxa	true	Inferred relationship	Some
SCARF syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
SCARF syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
SCARF syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
SCARF syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
SCARF syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
SCARF syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
SCARF syndrome	Is a	Ambiguous genitalia	true	Inferred relationship	Some
SCARF syndrome	Is a	Metabolic bone disease	false	Inferred relationship	Some
SCARF syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
SCARF syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
SCARF syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
SCARF syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
SCARF syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
SCARF syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
SCARF syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
SCARF syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
SCARF syndrome	Is a	Congenital/hereditary cutis laxa	false	Inferred relationship	Some
SCARF syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
SCARF syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
SCARF syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
SCARF syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
SCARF syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
SCARF syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
SCARF syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
SCARF syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	6
SCARF syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	6
SCARF syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
SCARF syndrome	Finding site	External genitalia structure	false	Inferred relationship	Some	7
SCARF syndrome	Finding site	Skin structure	false	Inferred relationship	Some	8
SCARF syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

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
3489209014	SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3489210016	SCARF syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3489211017	Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3489213019	Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3489212012	Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.	en	Definition	Active	Case sensitive	SNOMED CT core