OMOP Concept 4241960
Cutis laxa, autosomal recessive
StandardConditionSNOMED59451000Disorder
Maps from
2
Descendants
9
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Cutis laxa, autosomal recessive via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 143057 | Cutis laxa, autosomal recessive | Non-standard |
| Nebraska Lexicon | 59451000 | Cutis laxa, autosomal recessive | Non-standard |
Synonyms
Alternative names recorded for Cutis laxa, autosomal recessive across source vocabularies.
- Cutis laxa, autosomal recessive (disorder)
- cutis laxa, autosómico recesivo
- cutis laxa, autosómico recesivo (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(29)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Inherited cutis laxa
- 2Autosomal hereditary disorder
- 2Congenital connective tissue disorder
- 2Connective tissue hereditary disorder
- 2Cutis laxa
- 2Developmental hereditary disorder
- 2Hereditary disorder of the integument
- 3Collagen and elastic tissue disorders affecting skin
- 3Congenital disease
- 3Developmental disorder
- 3Disorder of connective tissue
- 3Disorder of integument
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Metabolic disease of collagen
- 4Disease
- 4Disorder of body system
- 4Disorder of fetus and/or newborn
- 4Disorder of skin
- 4Genetic disease
- 4Integumentary system finding
- 4Metabolic disease
- 5Clinical finding
- 5Disorder of skin and/or subcutaneous tissue
Narrower concepts
(9)Included automatically when you query with descendants.
- 1Cutis laxa, recessive, type I
- 1Cutis laxa, recessive, type II
- 1Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- 1de Barsey syndrome
- 1MACS syndrome
- 2ALDH18A1-related de Barsy syndrome
- 2Autosomal recessive cutis laxa type 2A
- 2Autosomal recessive cutis laxa type 2B
- 2Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome
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