OMOP Concept 36714541
X-linked intellectual disability, macrocephaly, macroorchidism syndrome
StandardConditionSNOMED719825000Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
1 source code normalizes to X-linked intellectual disability, macrocephaly, macroorchidism syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 719825000 | X-linked intellectual disability, macrocephaly, macroorchidism syndrome | Non-standard |
Synonyms
Alternative names recorded for X-linked intellectual disability, macrocephaly, macroorchidism syndrome across source vocabularies.
- Johnson syndrome
- síndrome de discapacidad intelectual ligada al cromosoma X, macrocefalia y macroorquidia
- síndrome de discapacidad intelectual ligada al cromosoma X, macrocefalia y macroorquidia (trastorno)
- síndrome de Johnson
- X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(28)Roll up to these when you need a wider cohort.
- 1Congenital macrocephaly
- 1Developmental hereditary disorder
- 1Intellectual disability
- 1X-linked recessive hereditary disease
- 2Behavior finding
- 2Congenital anomaly of head
- 2Developmental disorder
- 2Hereditary disease
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Macrocephaly
- 2Neurodevelopmental disorder
- 2X-linked hereditary disease
- 3Cognitive function finding
- 3Congenital malformation
- 3Disease
- 3Disorder of head
- 3Finding of head circumference
- 3Genetic disease
- 3Intelligence finding
- 3Mental state, behavior and/or psychosocial function finding
- 3Sex-linked hereditary disorder
- 4Body measurement finding
- 4Clinical finding
- 4Congenital disease
Get this concept via the API
Resolve X-linked intellectual disability, macrocephaly, macroorchidism syndrome - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/36714541?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card