Chromosome 19q13.11 deletion syndrome, distal

Preferred Label : Chromosome 19q13.11 deletion syndrome, distal;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by 324-kb deletion on 19q13.11;

Laboratory abnormalities : Minimal overlapping critical region for deletion 19:39,803,651-40,127,916 (Hg18);

Prefixed ID : #613026;

Details

Origin ID

613026;

UMLS CUI

C4311048;

CISMeF manual mappings
- 19q13.11 microdeletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 19q13.11 deletion [ICD-11 More detail]
- 19q13.11 microdeletion syndrome [ORDO Disease]
- chromosome 19q13.11 deletion syndrome [DO Concept]
- chromosome 19q13.11 deletion syndrome [MeSH concept]
- chromosome 19q13.11 deletion syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 19q13.11 deletion syndrome [DO Concept]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Anteverted nares [HPO term]
- Aplasia cutis congenita of scalp [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Blepharophimosis [HPO term]
- Carious teeth [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Dry skin [HPO term]
- Failure to thrive [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High forehead [HPO term]
- Hypodontia [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Isolated cases [HPO term]
- Long face [HPO term]
- Long palpebral fissure [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nail dysplasia [HPO term]
- Overlapping toe [HPO term]
- Postnatal growth retardation [HPO term]
- Prenatal growth deficiency [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Retrognathia [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Single umbilical artery [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sporadic [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 19q13.11 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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