784349004: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (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 with severe pulmonary, gastrointestinal and urinary anomalies (disorder)

\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 with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\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 with severe pulmonary, gastrointestinal and urinary anomalies (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\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 with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\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 with severe pulmonary, gastrointestinal and urinary anomalies (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\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 with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\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 with severe pulmonary, gastrointestinal and urinary anomalies (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)

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

3763729019 Urban Rifkin Davis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3763730012 Autosomal recessive cutis laxa type 1C en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3763731011 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3763732016 ARCL1C - autosomal recessive cutis laxa type 1C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3763733014 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

10635611000172118 relâchement de la peau avec anomalies pulmonaires, gastro-intestinales et urinaires sévères fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10635621000172111 cutis laxa avec anomalies pulmonaires, gastro-intestinales et urinaires sévères fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10635631000172114 relâchement cutané avec anomalies pulmonaires, gastro-intestinales et urinaires sévères fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4609651000172110 cutis laxa met ernstige pulmonale, gastro-intestinale en urinewegafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4609661000172112 autosomaal recessieve cutis laxa type 1C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	Is a	Cutis laxa, autosomal recessive	true	Inferred relationship	Some
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3763729019	Urban Rifkin Davis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763730012	Autosomal recessive cutis laxa type 1C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763731011	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763732016	ARCL1C - autosomal recessive cutis laxa type 1C	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763733014	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
10635611000172118	relâchement de la peau avec anomalies pulmonaires, gastro-intestinales et urinaires sévères	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10635621000172111	cutis laxa avec anomalies pulmonaires, gastro-intestinales et urinaires sévères	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10635631000172114	relâchement cutané avec anomalies pulmonaires, gastro-intestinales et urinaires sévères	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4609651000172110	cutis laxa met ernstige pulmonale, gastro-intestinale en urinewegafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4609661000172112	autosomaal recessieve cutis laxa type 1C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)