FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

310798000: Brachydactyly of hand (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
454311017 Brachydactyly of hand en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
707288010 Brachydactyly of hand (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
86271000077115 brachydactylie de la main fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


11 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachydactyly of hand Is a Brachydactyly true Inferred relationship Some
Brachydactyly of hand Is a Congenital anomaly of hand (disorder) false Inferred relationship Some
Brachydactyly of hand Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 1
Brachydactyly of hand Associated morphology anomalie du développement false Inferred relationship Some
Brachydactyly of hand Occurrence Congenital false Inferred relationship Some
Brachydactyly of hand Finding site Digit structure false Inferred relationship Some
Brachydactyly of hand Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Brachydactyly of hand Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Brachydactyly of hand Associated morphology anomalie congénitale false Inferred relationship Some 1
Brachydactyly of hand Finding site Upper extremity, including shoulder, arm, forearm, wrist, and hand false Inferred relationship Some 1
Brachydactyly of hand Is a Reduction deformity of upper limb false Inferred relationship Some
Brachydactyly of hand Associated morphology Abnormally short growth (morphologic abnormality) true Inferred relationship Some 1
Brachydactyly of hand Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 1
Brachydactyly of hand Is a Congenital shortening of upper limb false Inferred relationship Some
Brachydactyly of hand Occurrence Congenital false Inferred relationship Some 2
Brachydactyly of hand Is a Finding of digit of hand (finding) true Inferred relationship Some
Brachydactyly of hand Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Brachydactyly of hand Finding site Digit of hand structure false Inferred relationship Some 2
Brachydactyly of hand Is a Longitudinal deficiency of upper limb false Inferred relationship Some
Brachydactyly of hand Occurrence Congenital true Inferred relationship Some 1
Brachydactyly of hand Is a Longitudinal deficiency of part of upper limb (disorder) true Inferred relationship Some
Brachydactyly of hand Finding site Entire digit of hand true Inferred relationship Some 1
Brachydactyly of hand Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachydactyly of hand Is a Deformity of hand false Inferred relationship Some
Brachydactyly of hand Is a Congenital deformity of hand (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Synbrachydactyly of hand Is a False Brachydactyly of hand Inferred relationship Some
Brachydactyly-all 3 phalanges Is a True Brachydactyly of hand Inferred relationship Some
Brachydactyly-missing phalanx Is a True Brachydactyly of hand Inferred relationship Some
Brachydactyly of fingers, unspecified Is a False Brachydactyly of hand Inferred relationship Some
Brachysyndactyly of thumb Is a False Brachydactyly of hand Inferred relationship Some
Symbrachydactyly Is a False Brachydactyly of hand Inferred relationship Some
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. Is a True Brachydactyly of hand Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Brachydactyly of hand Inferred relationship Some
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Is a True Brachydactyly of hand Inferred relationship Some
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Is a True Brachydactyly of hand Inferred relationship Some
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Is a True Brachydactyly of hand Inferred relationship Some
Symbrachydactyly of digit of hand (disorder) Is a True Brachydactyly of hand Inferred relationship Some
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. Is a True Brachydactyly of hand Inferred relationship Some

This concept is not in any reference sets

Back to Start