778068007: cutis laxa autosomique récessive type 2B (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \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)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \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\Autosomal recessive cutis laxa type 2B
• \constatation générale à propos de l'observation du patient\constatation liée à une intervention\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \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)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\constatation à propos de l'os\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\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \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)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \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\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2B
• \Disease\affection du tissu conjonctif\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\trouble métabolique\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\trouble métabolique\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\trouble métabolique\maladie métabolique de l'os\Autosomal recessive cutis laxa type 2B
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \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)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
• \Disease\trouble du développement\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
785411000241118	cutis laxa autosomique récessive type 2B (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
948471000172113	ARCL2 type progéroïde	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
978631000172114	cutis laxa autosomique récessive type 2B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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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