93300007: Congenital hypoplasia of ulna (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna

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

Descriptions:

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	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	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	dysgenese	false	Inferred relationship	Some
Congenital hypoplasia of ulna	Associated morphology	kongenit partiel mangel	false	Inferred relationship	Some	3
Congenital hypoplasia of ulna	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	5
Congenital hypoplasia of ulna	Finding site	Connective tissue (substance)	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	kongenit hypoplasi	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	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	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	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	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	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	kongenit hypoplasi	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	true	Inferred relationship	Some
Congenital hypoplasia of ulna	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

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
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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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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
1646901000005113	Kongenit hypoplasi af ulna	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)