mental retardation-hypotonic facies syndrome, x-linked, 1

Preferred Label : mental retardation-hypotonic facies syndrome, x-linked, 1;

CISMeF synonym : juberg marsidi syndrome;

CISMeF acronym : XMLR;

MeSH synonym : chudley lowry hoar syndrome; chudley mental retardation syndrome; chudley syndrome 1; Holmes-Gang syndrome; mental retardation, x-linked, with growth retardation, deafness, and microgenitalism; mental retradation, X-linked with growth delay, deafness, microgenitalism; smith-fineman-myers syndrome 1; X-linked hypogonadism gynecomastia mental retardation; Carpenter-Waziri syndrome; MRXHF1; X-Linked mental Retardation-Hypotonic facies syndrome; Chudley-Lowry syndrome;

Related MeSH term : Juberg-Marsidi syndrome; Juberg-Marsidi Mental Retardation Syndrome;

Details

Origin ID

C537457;

UMLS CUI

C4759781;

Currated CISMeF NLP mapping
- Carpenter Waziri syndrome [Disease (Nov.)]
- Carpenter Waziri syndrome (disorder) [SNOMED CT concept]
- Carpenter-Waziri syndrome [ORDO Disease]
- Chudley Lowry Hoar syndrome (disorder) [SNOMED CT concept]
- Chudley-Lowry-Hoar syndrome [ORDO Disease]
- Intellectual disability-hypotonic facies syndrome, X-linked, 1 [OMIM Phenotype]
- Juberg Marsidi syndrome (disorder) [SNOMED CT concept]
- Juberg-Marsidi syndrome [ORDO Disease]
- Juberg-Marsidi syndrome [ICD-11 More detail]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- deafness [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
ORDO relation(s)
- Juberg-Marsidi syndrome [ORDO Disease]
Record concept(s)
- Mental retardation-hypotonic facies syndrome, x-linked, 1 [MeSH concept]
See also (suggested by CISMeF)
- mental retardation smith fineman myers type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carpenter Waziri syndrome (disorder) [SNOMED CT concept]
- Chudley Lowry Hoar syndrome (disorder) [SNOMED CT concept]
- Chudley-Lowry-Hoar syndrome [ORDO Disease]
- Holmes Gang syndrome (disorder) [SNOMED CT concept]
- Holmes-Gang syndrome [ORDO Disease]
- Intellectual disability-hypotonic facies syndrome, X-linked, 1 [OMIM Phenotype]
- Juberg Marsidi syndrome (disorder) [SNOMED CT concept]
- Juberg-Marsidi syndrome [ORDO Disease]
- X-linked intellectual disability-hypotonic face syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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