Aarskog syndrome

Preferred Label : Aarskog syndrome;

MeSH note : Faciodigitogenital syndrome, recessive, also has hair abnormalities and triangular or elongated face, telecanthus or mild hypertelorism, wide palpebral fissures without ptosis, short stubby nose with anteverted nostrils, high arched and narrow palate, long, deep philtrum, wide mouth with protruding lower lip, posteriorly rotated ears with minor ear anomalies, long neck with sloping shoulders.;

CISMeF synonym : faciodigitogenital syndrome, recessive;

MeSH synonym : Aarskog-Scott syndrome; scott aarskog syndrome; faciogenital dysplasia; aarskog disease; faciodigitogenital syndrome; Facio-Digito-Genital Dysplasia;

Related MeSH term : Aarskog-Like Syndrome; Kuwait Type Faciodigitogenital Syndrome;

Details

Origin ID

C535331;

UMLS CUI

C0175701;

Automatic exact mappings (from CISMeF team)
- Greig's syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Aarskog Syndrome [NCIt concept]
- Aarskog syndrome [Disease (Nov.)]
- Aarskog syndrome [MedDRA LLT]
- Aarskog syndrome [DO Concept]
- Aarskog syndrome (disorder) [SNOMED CT concept]
- Aarskog-Scott syndrome [ICD-11 More detail]
- 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]
DO Cross reference
- X-linked Aarskog syndrome [DO Concept]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- face [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- genitalia, male [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
Record concept(s)
- Aarskog syndrome [MeSH concept]
- faciodigitogenital syndrome, recessive [MeSH concept]
See also inter- (CISMeF)
- Autosomal recessive faciodigitogenital syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aarskog Syndrome [NCIt concept]
- Aarskog syndrome [MedDRA LLT]
- Aarskog syndrome (disorder) [SNOMED CT concept]
- Aarskog-Scott syndrome [MedDRA LLT]
- Aarskog-Scott syndrome [ORDO Disease]
- Aarskog-scott syndrome [OMIM Phenotype]
- X-linked Aarskog syndrome [DO Concept]
- aarskog syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal recessive faciodigitogenital syndrome [ORDO Disease]
- Faciodigitogenital syndrome, autosomal recessive [OMIM Phenotype]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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