778068007: Autosomal recessive cutis laxa type 2B (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\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \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\Autosomal recessive cutis laxa type 2B
• \Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of proline AND/OR hydroxyproline metabolism\Autosomal recessive cutis laxa type 2B
• \Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Metabolic disease\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
• \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\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737618018	Autosomal recessive cutis laxa type 2B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737619014	Autosomal recessive cutis laxa type 2B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737620015	Autosomal recessive cutis laxa type 2 progeroid type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737621016	ARCL2B - autosomal recessive cutis laxa type 2B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737622011	A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	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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