OMOP Concept 1245007
ALDH18A1-related de Barsy syndrome
StandardConditionSNOMED1295485009Disorder
Maps from
0
Descendants
0
Valid from
1 Dec 2023
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for ALDH18A1-related de Barsy syndrome across source vocabularies.
- Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome
- Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder)
- Autosomal recessive cutis laxa type IIIa
- cutis laxa autosómica recesiva tipo IIIa
- deficiencia de delta-1-pirrolina 5-carboxilato sintetasa
- deficiencia de P5CS
- Delta-1-pyrroline 5-carboxylate synthetase deficiency
- Neurocutaneous syndrome Bicknell type
- P5CS deficiency
- síndrome de De Barsy asociado a gen miembro A1 de familia aldehído deshidrogenasa 18
- síndrome de De Barsy asociado a gen miembro A1 de familia aldehído deshidrogenasa 18 (trastorno)
- síndrome de De Barsy asociado al gen ALDH18A1
- síndrome neurocutáneo tipo Bicknell
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(95)Roll up to these when you need a wider cohort.
- 1de Barsey syndrome
- 2Arthropathy
- 2Athetoid movement
- 2Congenital corneal opacity
- 2Cutis laxa, autosomal recessive
- 2Developmental delay
- 2Disorder involving the integument of fetus OR newborn
- 2Disorder of proline AND/OR hydroxyproline metabolism
- 2Hereditary disorder of musculoskeletal system
- 2Hereditary disorder of the visual system
- 2Hyperreflexia
- 2Intellectual disability
- 2Joint laxity
- 2Multiple malformation syndrome with facial defects as major feature
- 2Musculoskeletal and connective tissue disorder
- 3Abnormal reflex
- 3Autosomal recessive hereditary disorder
- 3Behavior finding
- 3Congenital anomaly of face
- 3Congenital structural abnormality of cornea
- 3Corneal opacity
- 3Developmental disorder
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of connective tissue
- 3Disorder of fetus and/or newborn
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