Chromosome 10q22.3-q23.2 deletion syndrome

Preferred Label : Chromosome 10q22.3-q23.2 deletion syndrome;

Type : Phenotype, molecular basis known;

Included titles and symbols : Juvenile polyposis of infancy; Juvenile polyposis, infantile;

Prefixed ID : #612242;

Details

Origin ID

612242;

UMLS CUI

C4225669;

Automatic exact mappings (from CISMeF team)
- 10q22.3q23.3 microdeletion syndrome [ORDO Disease]
- Juvenile polyposis of infancy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Juvenile polyposis of infancy [ORDO Disease]
- chromosome 10q23 deletion syndrome [DO Concept]
- chromosome 10q23 deletion syndrome [MeSH concept]
- chromosome 10q23 deletion syndrome [MeSH Supplementary Concept]
- juvenile polyposis syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 10q23 deletion syndrome [DO Concept]
HPO term(s)
- Arachnodactyly [HPO term]
- Autism [HPO term]
- Breast aplasia [HPO term]
- Broad forehead [HPO term]
- Contiguous gene syndrome [HPO term]
- Deeply set eye [HPO term]
- Expressive language delay [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Macrocephaly [HPO term]
- Neurodevelopmental delay [HPO term]
- Receptive language delay [HPO term]
- Smooth philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- 10q22.3q23.3 microdeletion syndrome [ORDO Disease]
- Juvenile polyposis of infancy [ORDO Disease]
- Juvenile polyposis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Juvenile polyposis syndrome [ORDO Disease]

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