Aarskog-Scott syndrome

Preferred Label : Aarskog-Scott syndrome;

ICD-11 definition : Aarskog syndrome or facio-digito-genital dysplasia is a rare X-linked condition associated with typical facial (widow's peak, hypertelorism, upturned nose and curved linear groove below lower lip) and digital features (swan neck deformity of fingers due to hyperextension of proximal interphalangeal joints and flexion at distal interphalangeal joints) and shawl scrotum.;

Details

Origin ID

2104999247;

Automatic exact mappings (from CISMeF team)
- Greig's syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Aarskog Syndrome [NCIt concept]
- Aarskog syndrome [MeSH Supplementary Concept]
- Aarskog syndrome [MeSH concept]
- Aarskog syndrome [MedDRA LLT]
- Aarskog syndrome [DO Concept]
- 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]

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