Aarskog Syndrome

Preferred Label : Aarskog Syndrome;

NCIt related terms : FGD; Aarskog-Scott Syndrome; Faciogenital Dysplasia;

Alternative definition : NICHD: An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay.;

Details

Origin ID

C129720;

UMLS CUI

C0175701;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Greig's syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Aarskog syndrome [MeSH concept]
- Aarskog syndrome [MeSH Supplementary Concept]
- Aarskog syndrome [Disease (Nov.)]
- Aarskog syndrome [MedDRA LLT]
- Aarskog syndrome [DO Concept]
- Aarskog syndrome [ICD-11 More detail]
- Aarskog syndrome (disorder) [SNOMED CT concept]
- Aarskog-Scott syndrome [MedDRA LLT]
- Aarskog-Scott syndrome [ORDO Disease]
- Aarskog-Scott syndrome [ICD-11 More detail]
- Aarskog-scott syndrome [OMIM Phenotype]
- X-linked Aarskog syndrome [DO Concept]
- aarskog syndrome [SNOMED Notion]
DO Cross reference
- X-linked Aarskog syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aarskog syndrome [MeSH Supplementary Concept]
- Aarskog syndrome [MeSH concept]
- Aarskog syndrome [MedDRA LLT]
- Aarskog syndrome (disorder) [SNOMED CT concept]
- Aarskog-Scott syndrome [ORDO Disease]
- Aarskog-Scott syndrome [MedDRA LLT]
- Aarskog-scott syndrome [OMIM Phenotype]
- X-linked Aarskog syndrome [DO Concept]
- aarskog syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- FGD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients