1145382006: Aplasia of limb (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Aplasia of limb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4545730013 Aplasia of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4552346015 Aplasia of extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4552347012 Aplasia of limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia of limb	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Aplasia of limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Aplasia of limb	Finding site	Limb structure	true	Inferred relationship	Some	1
Aplasia of limb	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Aplasia of limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aplasia of finger (disorder)	Is a	True	Aplasia of limb	Inferred relationship	Some
Aplasia of bone structure of extremity	Is a	True	Aplasia of limb	Inferred relationship	Some
Congenital complete absence of limb	Is a	True	Aplasia of limb	Inferred relationship	Some
Acheiropodia	Is a	True	Aplasia of limb	Inferred relationship	Some
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	Is a	True	Aplasia of limb	Inferred relationship	Some
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	Is a	True	Aplasia of limb	Inferred relationship	Some
Transverse deficiency of lower limb	Is a	True	Aplasia of limb	Inferred relationship	Some
Transverse deficiency of upper limb	Is a	True	Aplasia of limb	Inferred relationship	Some
Agenesis of hand	Is a	True	Aplasia of limb	Inferred relationship	Some
Agenesis of foot	Is a	True	Aplasia of limb	Inferred relationship	Some
Aplasia of muscle of limb	Is a	True	Aplasia of limb	Inferred relationship	Some
Aplasia of nail unit	Is a	True	Aplasia of limb	Inferred relationship	Some
Aplasia of palmar crease	Is a	True	Aplasia of limb	Inferred relationship	Some
Aplasia of radial artery	Is a	True	Aplasia of limb	Inferred relationship	Some
Aplasia of thumb	Is a	True	Aplasia of limb	Inferred relationship	Some
Aplasia of toe	Is a	True	Aplasia of limb	Inferred relationship	Some

Reference Sets