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(Q55787047)
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English
dysostosis with combined reduction defects of upper and lower limbs
human disease
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017433
class of disease
0 references
subclass of
syndrome with limb malformations as a major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017433
dysostosis of genetic origin with limb anomaly as a major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017433
exact match
http://www.orpha.net/ORDO/Orphanet_294957
0 references
Identifiers
ICD-11 (foundation)
649911082
0 references
1211657447
0 references
ICD-11 ID (MMS)
LB9B
subject named as
Reduction defects of upper and lower limbs
0 references
LD26.0
subject named as
Combined reduction defects of upper and lower limbs
0 references
Mondo ID
MONDO_0017433
0 references
Orphanet ID
294957
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017433
UMLS CUI
C5681000
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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