723367005: Macrocephaly, alopecia, cutis laxa, scoliosis 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\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis 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\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\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
5403024018	RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by 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. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403025017	RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterised by 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. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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