723367005: Macrocephaly, alopecia, cutis laxa, scoliosis 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\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Congenital anomaly of skin\RIN2 syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\RIN2 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\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\RIN2 syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 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\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\RIN2 syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\RIN2 syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\RIN2 syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 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\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\RIN2 syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\RIN2 syndrome
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\RIN2 syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\RIN2 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\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\RIN2 syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\RIN2 syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\RIN2 syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\RIN2 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2076721000168113	RIN2 syndrome	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
3424260016	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424261017	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424262012	MACS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424263019	MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424264013	RIN2 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3424265014	Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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