1145429003: Congenital hypoplasia of bone of upper limb (disorder)

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

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

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

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Fetal and/or neonatal disorder\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 bone of upper limb (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\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 bone of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of bone of upper limb (disorder)
\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 bone of upper limb (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Congenital hypoplasia of bone of extremity (disorder)\Congenital hypoplasia of bone of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of bone of upper limb (disorder)
\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 bone of upper limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4545889014 Congenital hypoplasia of bone of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5443727019 Congenital hypoplasia of bone of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplasia of bone of upper limb (disorder)	Is a	Congenital hypoplasia of bone of extremity (disorder)	true	Inferred relationship	Some
Congenital hypoplasia of bone of upper limb (disorder)	Is a	Finding of bone of upper limb	true	Inferred relationship	Some
Congenital hypoplasia of bone of upper limb (disorder)	Finding site	Bone structure of upper limb (body structure)	true	Inferred relationship	Some	1
Congenital hypoplasia of bone of upper limb (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital hypoplasia of bone of upper limb (disorder)	Is a	Congenital hypoplasia of part of upper limb	true	Inferred relationship	Some
Congenital hypoplasia of bone of upper limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypoplasia of bone of upper limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital hypoplasia of bone of radius and/or ulna (disorder)	Is a	True	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some
Congenital hypoplasia of bone of hand (disorder)	Is a	True	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some
Congenital hypoplasia of carpal bone	Is a	True	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some
Congenital hypoplasia of clavicle	Is a	True	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some
Congenital hypoplasia of humerus	Is a	True	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait.	Is a	True	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some
Congenital hypoplasia of glenoid cavity (disorder)	Is a	False	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some
Congenital hypoplasia of scapula (disorder)	Is a	True	Congenital hypoplasia of bone of upper limb (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4545889014	Congenital hypoplasia of bone of upper limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443727019	Congenital hypoplasia of bone of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core