784381008: Autosomal recessive cutis laxa type 2A (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 (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \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 (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Procedure related finding\Evaluation finding\Imaging finding (finding)\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Autosomal recessive cutis laxa type 2A
• \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 (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Autosomal recessive cutis laxa type 2A
• \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 (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Metabolic disease\Metabolic bone disease (disorder)\Autosomal recessive cutis laxa type 2A
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763865018	ARCL2A - autosomal recessive cutis laxa type 2A	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763866017	Autosomal recessive cutis laxa type 2A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763867014	Autosomal recessive cutis laxa type 2A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763868016	A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763865018	ARCL2A - autosomal recessive cutis laxa type 2A	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763866017	Autosomal recessive cutis laxa type 2A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763867014	Autosomal recessive cutis laxa type 2A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763868016	A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3411571001000117	Cutis laxa, autosomal-rezessive, Typ 2A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5592221000241115	cutis laxa autosomique récessive de type 2A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5592221000241115	cutis laxa autosomique récessive de type 2A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411571001000117	Cutis laxa, autosomal-rezessive, Typ 2A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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