Poland syndrome

Preferred Label : Poland syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Poland syndactyly; Poland anomaly; Poland sequence;

Included titles and symbols : Pectoralis muscle, absence of;

Description : Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.;

Inheritance : Autosomal dominant;

Prefixed ID : %173800;

Details

Origin ID

173800;

UMLS CUI

C0032357;

Automatic exact mappings (from CISMeF team)
- Other congenital malformations of musculoskeletal system [ICD-10 Sub-category]
- Other congenital malformations of musculoskeletal system [ICD-10 Sub-category (who)]
- Poland syndrome [DO Concept]
- pectoralis muscle, absence of [MeSH Supplementary Concept]
- pectoralis muscle, absence of [MeSH concept]
Currated CISMeF NLP mapping
- Poland Syndrome [NCIt concept]
- Poland anomaly (disorder) [SNOMED CT concept]
- Poland syndrome [PASCAL descriptor]
- Poland syndrome [ICD-11 Sub-sub category]
- Poland syndrome [ORDO Disease]
- Poland's anomaly [MedDRA LLT]
- Poland's syndrome [MedDRA Preferred Term]
- Syndrome Polands [MedDRA LLT]
- poland anomaly [SNOMED Notion]
- poland syndrome [MeSH Descriptor]
- poland syndrome [MeSH concept]
DO Cross reference
- Poland syndrome [DO Concept]
HPO term(s)
- Abnormality of the breast [HPO term]
- Absence of pectoralis minor muscle [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dextrocardia [HPO term]
- Hemivertebrae [HPO term]
- Hypoplasia of deltoid muscle [HPO term]
- Hypoplasia of latissimus dorsi muscle [HPO term]
- Hypoplasia of serratus anterior muscle [HPO term]
- Hypoplastic ribs [HPO term]
- Rib fusion [HPO term]
- Short ribs [HPO term]
- Sprengel anomaly [HPO term]
- Syndactyly [HPO term]
- Unilateral absence of pectoralis major muscle [HPO term]
- Unilateral brachydactyly [HPO term]
- Unilateral hypoplasia of pectoralis major muscle [HPO term]
- Unilateral oligodactyly [HPO term]
ORDO concept(s)
- Poland syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Poland Syndrome [NCIt concept]
- Poland anomaly (disorder) [SNOMED CT concept]
- Poland syndrome [ORDO Disease]
- Poland syndrome [PASCAL descriptor]
- Poland syndrome [DO Concept]
- Poland's anomaly [MedDRA LLT]
- Poland's syndrome [MedDRA Preferred Term]
- Syndrome Polands [MedDRA LLT]
- poland anomaly [SNOMED Notion]
- poland syndrome [MeSH Descriptor]
- poland syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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