723367005: Macrocephaly, alopecia, cutis laxa, scoliosis 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\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \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\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \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\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \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)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \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\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \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\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\affection du tissu conjonctif\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\trouble métabolique\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \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\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)

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
3424260016	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424261017	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424262012	MACS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424263019	MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424264013	RIN2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424265014	Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424266010	A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11.	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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