OMOP Concept 4180651
Developmental hereditary disorder
StandardConditionSNOMED363070008Disorder
Maps from
0
Descendants
2,145
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Developmental hereditary disorder across source vocabularies.
- Developmental hereditary disorder (disorder)
- trastorno hereditario congénito
- trastorno hereditario congénito (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
(2,145)Included automatically when you query with descendants.
- 111p15.4 microduplication syndrome
- 116p12.2 microdeletion syndrome
- 117q11.2 microduplication syndrome
- 117q11 deletion syndrome
- 117q23.1-q23.2 duplication syndrome
- 12p13.2 microdeletion syndrome
- 12p21 microdeletion syndrome
- 12p21 microdeletion syndrome without cystinuria
- 13-methylglutaconic aciduria type 9
- 13-M syndrome
- 13-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- 13-phosphoglycerate dehydrogenase deficiency infantile form
- 13q26q28 deletion syndrome
- 13q29 microdeletion syndrome
- 146,XX disorder of sex development with skeletal anomalies syndrome
- 146,XX ovarian dysgenesis, short stature syndrome
- 146,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
- 146,XY disorder of sex development due to isolated 17,20-lyase deficiency
- 146,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
- 146,XY partial gonadal dysgenesis
- 14H leukodystrophy
- 15-amino-4-imidazole carboxamide ribosiduria
- 17p22.1 microduplication syndrome
- 18q13 microdeletion syndrome
- 18q24.3 microdeletion syndrome
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