ectromelia - CISMeF

Preferred Label : ectromelia;

MeSH definition : Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.;

MeSH synonym : Congenital Limb Reduction Deformity; Congenital Limb Reduction Deformities;

Related MeSH term : amelia; phocomelia; sirenomelia; hemimelia; Mermaid Malformation; Malformation, Mermaid; Sirenomelus; Sirenomelia Sequence; Sequence, Sirenomelia; Sirenomelia Sequences; Fused Legs and Feet; Mermaid Syndrome; Syndrome, Mermaid;

MeSH annotation : abnorm of arm or leg: see Dorland for definition & inclusions; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Sirenomelia;

Details

Origin ID

D004480;

UMLS CUI

C0013589;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital absence of upper arm and forearm with hand present [ORDO Disease]
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- HEMIMELIA [WHO-ART Included Term]
- Hemimelia [NCIt concept]
- Hemimelia [ORDO Disease]
- Hemimelia [MedDRA LLT]
- Hemimelia (disorder) [SNOMED CT concept]
- Longitudinal deficiency of limb (disorder) [SNOMED CT concept]
- Mermaid sirenomelia (disorder) [Inactive SNOMED CT concept]
- Mermaid syndrome [MedDRA LLT]
- Phocomelia, unspecified limb(s) [ICD-10 Sub-category (who)]
- Sacral defect with anterior meningocele [OMIM Phenotype]
- Sirenoform monster (disorder) [Inactive SNOMED CT concept]
- Sirenomelia [NCIt concept]
- Sirenomelia [ICD-11 Sub-sub category]
- Sirenomelia [HPO term]
- Sirenomelia [ORDO Disease]
- Sirenomelia [MedDRA Preferred Term]
- Sirenomelia sequence (disorder) [Inactive SNOMED CT concept]
- Sirenomelus [PASCAL descriptor]
- hemimelia, nos [SNOMED Notion]
- sirenoform monster [SNOMED Notion]
- sirenomelia sequence [SNOMED Notion]
Currated CISMeF NLP mapping
- AMELIA [WHO-ART Included Term]
- Amelia [NCIt concept]
- Amelia [ORDO Disease]
- Amelia [MedDRA LLT]
- Congenital absence of unspecified limb(s) [ICD-10 Sub-category]
- Congenital absence of unspecified limb(s) [ICD-10 Sub-category (who)]
- Congenital complete absence of limb (disorder) [SNOMED CT concept]
- ECTROMELIA [WHO-ART High Level Term]
- Ectromelia [NCIt concept]
- Ectromelia [MedDRA LLT]
- Ectromelia (disorder) [SNOMED CT concept]
- PHOCOMELIA [WHO-ART Included Term]
- Phocomelia [PASCAL descriptor]
- Phocomelia [NCIt concept]
- Phocomelia [HPO term]
- Phocomelia [MedDRA LLT]
- Phocomelia [HRDO Sign]
- amelia, nos [SNOMED Notion]
- ectromelia, nos [SNOMED Notion]
- phocomelia, nos [SNOMED Notion]
False automatic mappings
- Amelia [HPO term]
- Amenable [NCIt concept]
HPO term
- Amelia [HPO term]
- Phocomelia [HPO term]
- Sirenomelia [HPO term]
Manual BTNT mappings - CISMeF
- Fibular hemimelia [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Non-syndromic limb malformation [ORDO Disease]
- Non-syndromic limb reduction defect [ORDO Disease]
- Sequence or association [ORDO Disease]
- Syndrome with limb malformations as a major feature [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
Record concept(s)
- amelia [MeSH concept]
- ectromelia [MeSH concept]
- hemimelia [MeSH concept]
- phocomelia [MeSH concept]
- sirenomelia [MeSH concept]
Related MeSH Supplementary Concept(s)
- DK phocomelia syndrome [MeSH Supplementary Concept]
- Laurin-Sandrow syndrome [MeSH Supplementary Concept]
- Tetraphocomelia-Thrombocytopenia syndrome [MeSH Supplementary Concept]
- X-linked tetra-amelia [MeSH Supplementary Concept]
- absence of tibia [MeSH Supplementary Concept]
- al awadi syndrome [MeSH Supplementary Concept]
- amelia and terminal transverse hemimelia [MeSH Supplementary Concept]
- amelia, autosomal recessive [MeSH Supplementary Concept]
- johnson munson syndrome [MeSH Supplementary Concept]
- madokoro ohdo sonoda syndrome [MeSH Supplementary Concept]
- polycystic kidney disease, potter type I, with microbrachycephaly, hypertelorism, and brachymelia [MeSH Supplementary Concept]
- richieri costa da silva syndrome [MeSH Supplementary Concept]
- roberts syndrome [MeSH Supplementary Concept]
- rudd klimek syndrome [MeSH Supplementary Concept]
- selig benacerraf greene syndrome [MeSH Supplementary Concept]
- tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities [MeSH Supplementary Concept]
- tetra-amelia autosomal recessive [MeSH Supplementary Concept]
- tetra-amelia with pulmonary hypoplasia [MeSH Supplementary Concept]
- tetraamelia multiple malformations [MeSH Supplementary Concept]
- tibia, hypoplasia of, with polydactyly [MeSH Supplementary Concept]
- yim ebbin syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Phocomelia (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ECTROMELIA [WHO-ART High Level Term]
- Ectromelia [NCIt concept]
- Ectromelia [MedDRA LLT]
- Ectromelia (disorder) [SNOMED CT concept]
- ectromelia, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Sirenomelus (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients