734173003: Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \constatation à propos d'une région de la tête et du cou\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\SCARF syndrome
• \Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\SCARF syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\SCARF syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\SCARF syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\SCARF syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\SCARF syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\SCARF syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited cutis laxa\SCARF syndrome
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Inherited cutis laxa\SCARF syndrome
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\SCARF syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\SCARF syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\SCARF syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\SCARF syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\SCARF syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\SCARF syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\SCARF syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Ambiguous genitalia\SCARF syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\SCARF syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Inherited cutis laxa\SCARF syndrome
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Inherited cutis laxa\SCARF syndrome
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\SCARF syndrome
• \Disease\affection du tissu conjonctif\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \Disease\trouble métabolique\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\SCARF syndrome
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Inherited cutis laxa\SCARF syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\SCARF syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\SCARF syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited cutis laxa\SCARF syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SCARF syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Ambiguous genitalia\SCARF syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\SCARF syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3489210016	SCARF syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3489211017	Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3489213019	Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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