OMOP Concept 4312226
Autosomal recessive hereditary disorder
StandardConditionSNOMED85995004Disorder
Maps from
1
Descendants
2,129
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to Autosomal recessive hereditary disorder via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 141428 | Ehlers-Danlos syndrome, recessive type 4 | Non-standard |
Synonyms
Alternative names recorded for Autosomal recessive hereditary disorder across source vocabularies.
- Autosomal recessive hereditary disorder (disorder)
- Hereditary disorder trait (autosomal)
- rasgo de trastorno hereditario (autosómico)
- Recessive hereditary disorder (autosomal)
- trastorno hereditario autosómico recesivo
- trastorno hereditario autosómico recesivo (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(5)Roll up to these when you need a wider cohort.
Narrower concepts
(2,129)Included automatically when you query with descendants.
- 12-aminoadipic 2-oxoadipic aciduria
- 12-methylbutyryl-coenzyme A dehydrogenase deficiency disease
- 12p21 microdeletion syndrome without cystinuria
- 13-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
- 13-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency
- 13-Methylglutaconic aciduria type 1
- 13-Methylglutaconic aciduria type 3
- 13-Methylglutaconic aciduria type 4
- 13-methylglutaconic aciduria type 5
- 13-methylglutaconic aciduria type 7
- 13-methylglutaconic aciduria type 9
- 13-M syndrome
- 13-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- 13-phosphoglycerate dehydrogenase deficiency infantile form
- 13-phosphoglycerate dehydrogenase deficiency juvenile form
- 146,XX disorder of sex development with skeletal anomalies syndrome
- 146,XX ovarian dysgenesis, short stature syndrome
- 146,XY disorder of sex development due to isolated 17,20-lyase deficiency
- 146,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
- 14H leukodystrophy
- 15,10-Methylenetetrahydrofolate reductase deficiency
- 15-amino-4-imidazole carboxamide ribosiduria
- 15-Oxoprolinase deficiency
- 17p22.1 microduplication syndrome
- 1Abetalipoproteinemia
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