784349004: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (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\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \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\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \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\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \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\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Integumentary system finding\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \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\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \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\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763729019	Urban Rifkin Davis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3763730012	Autosomal recessive cutis laxa type 1C	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763731011	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3763732016	ARCL1C - autosomal recessive cutis laxa type 1C	en	Synonym	Active	Case sensitive	SNOMED CT core
3763733014	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	en	Synonym	Active	Case insensitive	SNOMED CT core
3763734015	A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.	en	Definition	Active	Case sensitive	SNOMED CT core
3763735019	A rare genetic dermis elastic tissue disorder characterised by generalised cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.	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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