Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Preferred Label : Noonan Syndrome-Like Disorder with Loose Anagen Hair 1;

NCIt synonyms : NSLH1; Tosti Syndrome; Mazzanti Syndrome;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.;

NCI Metathesaurus CUI : CL760788;

Details

Origin ID

C176939;

UMLS CUI

C4478716;

Currated CISMeF NLP mapping
- Noonan syndrome-like disorder with loose anagen hair 1 [OMIM Phenotype]
- Noonan syndrome-like disorder with loose anagen hair 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome-like disorder with loose anagen hair 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Noonan syndrome like disorder with loose anagen hair [Disease (Nov.)]
- Noonan syndrome-like disorder with loose anagen hair [ORDO Disease]
- Noonan syndrome-like disorder with loose anagen hair (disorder) [SNOMED CT concept]
- Noonan-Like syndrome with loose anagen hair [MeSH Supplementary Concept]
- Noonan-Like syndrome with loose anagen hair [MeSH concept]
disease_mapped_to_gene
- SHOC2 Gene [NCIt concept]
related_to_genetic_biomarker
- SHOC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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