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93300007: Congenital hypoplasia of ulna (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
154398013 Congenital hypoplasia of ulna en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
154399017 Congenital short ulna en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
837004018 Congenital hypoplasia of ulna (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4709471000241119 hypoplasie du cubitus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of ulna Is a Acquired deformity of upper limb false Inferred relationship Some
Congenital hypoplasia of ulna Is a Congenital anomaly of ulna (disorder) false Inferred relationship Some
Congenital hypoplasia of ulna Is a Longitudinal deficiency of ulna false Inferred relationship Some
Congenital hypoplasia of ulna Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Limb structure false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Upper extremity, including shoulder, arm, forearm, wrist, and hand false Inferred relationship Some 5
Congenital hypoplasia of ulna Associated morphology anomalie du développement false Inferred relationship Some
Congenital hypoplasia of ulna Associated morphology Congenital partial absence false Inferred relationship Some 3
Congenital hypoplasia of ulna Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 5
Congenital hypoplasia of ulna Finding site Connective tissue false Inferred relationship Some
Congenital hypoplasia of ulna Finding site Bone structure of ulna true Inferred relationship Some 1
Congenital hypoplasia of ulna Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Congenital hypoplasia of ulna Occurrence Congenital false Inferred relationship Some
Congenital hypoplasia of ulna Finding site Upper extremity, including shoulder, arm, forearm, wrist, and hand false Inferred relationship Some 3
Congenital hypoplasia of ulna Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 4
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 4
Congenital hypoplasia of ulna Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 3
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 1
Congenital hypoplasia of ulna Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 3
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 1
Congenital hypoplasia of ulna Is a Congenital malformation false Inferred relationship Some
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 1
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 1
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 1
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 1
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Upper extremity, including shoulder, arm, forearm, wrist, and hand false Inferred relationship Some 3
Congenital hypoplasia of ulna Associated morphology Congenital absence false Inferred relationship Some 3
Congenital hypoplasia of ulna Is a Congenital anomaly of ulna (disorder) true Inferred relationship Some
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 1
Congenital hypoplasia of ulna Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Congenital hypoplasia of ulna Occurrence Congenital false Inferred relationship Some 2
Congenital hypoplasia of ulna Finding site Bone structure of ulna false Inferred relationship Some 2
Congenital hypoplasia of ulna Associated morphology Hypoplasia false Inferred relationship Some 2
Congenital hypoplasia of ulna Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of ulna Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of ulna Is a Congenital hypoplasia of part of upper limb false Inferred relationship Some
Congenital hypoplasia of ulna Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital hypoplasia of ulna Is a Congenital hypoplasia of bone of radius and/or ulna (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Is a True Congenital hypoplasia of ulna Inferred relationship Some
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Is a True Congenital hypoplasia of ulna Inferred relationship Some
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Is a True Congenital hypoplasia of ulna Inferred relationship Some
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability. Is a True Congenital hypoplasia of ulna Inferred relationship Some
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. Is a True Congenital hypoplasia of ulna Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a True Congenital hypoplasia of ulna Inferred relationship Some

This concept is not in any reference sets

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