Chromosome 18q deletion syndrome

Preferred Label : Chromosome 18q deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 18q- syndrome; 18q- syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by interstitial or terminal deletion of chromosome 18q;

Laboratory abnormalities : Interstitial or terminal deletion of 18q;

Prefixed ID : #601808;

Details

Origin ID

601808;

UMLS CUI

C0432443;

Automatic exact mappings (from CISMeF team)
- Distal chromosome 18q deletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 18q deletion [ICD-11 More detail]
- 18q minus syndrome [MedDRA Preferred Term]
- 18q partial monosomy syndrome [SNOMED Notion]
- 18q partial monosomy syndrome (disorder) [SNOMED CT concept]
- 18q syndrome [MedDRA LLT]
- Deletion 18q Syndrome [NCIt concept]
- Deletion of long arm of chromosome 18 (disorder) [SNOMED CT concept]
- Monosomy 18q [ORDO Disease]
- chromosome 18 deletion syndrome [MeSH Supplementary Concept]
- chromosome 18q deletion syndrome [DO Concept]
- chromosome 18q syndrome [MeSH concept]
DO Cross reference
- chromosome 18q deletion syndrome [DO Concept]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Absence of the pulmonary valve [HPO term]
- Aortic valve stenosis [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Asthma [HPO term]
- Atopic dermatitis [HPO term]
- Atresia of the external auditory canal [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Broad-based gait [HPO term]
- Cerebellar hypoplasia [HPO term]
- Choanal stenosis [HPO term]
- Chorea [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital vertical talus [HPO term]
- Congestive heart failure [HPO term]
- Cryptorchidism [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed CNS myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Dysplastic aortic valve [HPO term]
- Dysplastic pulmonary valve [HPO term]
- Epicanthus [HPO term]
- Failure to thrive in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint laxity [HPO term]
- Low anterior hairline [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Overlapping toe [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Poor coordination [HPO term]
- Poor weight gain [HPO term]
- Prominent nose [HPO term]
- Proximal placement of thumb [HPO term]
- Recurrent respiratory infections [HPO term]
- Rocker bottom foot [HPO term]
- Rod-cone dystrophy [HPO term]
- Scoliosis [HPO term]
- Secretory IgA deficiency [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Sporadic [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Toe syndactyly [HPO term]
- Tremor [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
ORDO concept(s)
- Monosomy 18q [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 18q syndrome [MedDRA LLT]
- Chromosome 18 deletion syndrome [MeSH concept]
- Deletion 18q Syndrome [NCIt concept]
- Deletion of long arm of chromosome 18 (disorder) [SNOMED CT concept]
- Deletions of chromosome 18 [ICD-11 Subcategory]
- Deletions of the long arm of chromosome 18 [ICD-11 Sub-sub category]
- Monosomy 18q [ORDO Disease]
- chromosome 18 deletion syndrome [MeSH Supplementary Concept]
- chromosome 18q deletion syndrome [DO Concept]
Validated automatic mappings to NTBT
- Deletions of the long arm of chromosome 18 [ICD-11 Sub-sub category]

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