floating-harbor syndrome

Preferred Label : floating-harbor syndrome;

MeSH note : Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes;

MeSH synonym : Pelletier-Leisti syndrome; Leisti-Hollander-Rimoin syndrome; FLHS;

Details

Origin ID

C537062;

UMLS CUI

C0729582;

Automatic exact mappings (from CISMeF team)
- Floating-Harbor syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Floating-Harbor Syndrome [NCIt concept]
- Floating-Harbor syndrome [MedDRA Preferred Term]
- Floating-Harbor syndrome [DO Concept]
- Floating-Harbor syndrome [ORDO Disease]
- Floating-Harbor syndrome (disorder) [SNOMED CT concept]
- Floating-harbor syndrome [OMIM Phenotype]
DO Cross reference
- Floating-Harbor syndrome [DO Concept]
Has phenotype(s) (HPO)
- Thin lips [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- heart septal defects, ventricular [MeSH Descriptor]
ORDO relation(s)
- Floating-Harbor syndrome [ORDO Disease]
Record concept(s)
- Floating-harbor syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Floating-Harbor Syndrome [NCIt concept]
- Floating-Harbor syndrome [ORDO Disease]
- Floating-Harbor syndrome [MedDRA Preferred Term]
- Floating-Harbor syndrome [DO Concept]
- Floating-Harbor syndrome (disorder) [SNOMED CT concept]
- Floating-harbor syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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