Chromosome 9p deletion syndrome

Preferred Label : Chromosome 9p deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Monosomy 9p syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a deletion of chromosome 9p;

Prefixed ID : #158170;

Details

Origin ID

158170;

UMLS CUI

C0795830;

Automatic exact mappings (from CISMeF team)
- 9p partial monosomy syndrome (disorder) [Inactive SNOMED CT concept]
- Distal monosomy 9p [ORDO Disease]
- Distal monosomy 9p syndrome (disorder) [SNOMED CT concept]
- chromosome 9, partial monosomy 9p [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Alfi syndrome [ICD-11 More detail]
- Monosomy 9p [ORDO Disease]
- Monosomy 9p (disorder) [SNOMED CT concept]
- chromosome 9p deletion syndrome [MeSH concept]
- chromosome 9p deletion syndrome [MeSH Supplementary Concept]
- chromosome 9p deletion syndrome [DO Concept]
DO Cross reference
- chromosome 9p deletion syndrome [DO Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blond hair [HPO term]
- Choanal atresia [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Dermatoglyphic variants [HPO term]
- Epicanthus [HPO term]
- Fair hair [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Heart murmur [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Hyperconvex nail [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Narrow palpebral fissure [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Speech delay [HPO term]
- Sporadic [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Monosomy 9p [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alfi syndrome [ICD-11 More detail]
- Monosomy 9p [ORDO Disease]
- Monosomy 9p (disorder) [SNOMED CT concept]
- chromosome 9p deletion syndrome [MeSH Supplementary Concept]
- chromosome 9p deletion syndrome [MeSH concept]
- chromosome 9p deletion syndrome [DO Concept]

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