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771261002: Digital extensor muscle aplasia with polyneuropathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705326018 Digital extensor muscle aplasia with polyneuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705327010 Digital extensor muscle aplasia with polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705328017 Polyneuropathy, hand defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705329013 Hamanishi Ueba Tsuji syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705330015 Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705331016 Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705332011 A rare hereditary motor and sensory neuropathy with characteristics of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705326018 Digital extensor muscle aplasia with polyneuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705327010 Digital extensor muscle aplasia with polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705328017 Polyneuropathy, hand defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705329013 Hamanishi Ueba Tsuji syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705330015 Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705331016 Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705332011 A rare hereditary motor and sensory neuropathy with characteristics of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3453671001000112 Aplasie der Fingerstrecker mit Polyneuropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930711000172111 aplasie des muscles extenseurs des doigts et pouce-polyneuropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968211000172113 syndrome de Hamanishi-Ueba-Tsuji fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930711000172111 aplasie des muscles extenseurs des doigts et pouce-polyneuropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968211000172113 syndrome de Hamanishi-Ueba-Tsuji fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453671001000112 Aplasie der Fingerstrecker mit Polyneuropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Finding site Structure of extensor muscle of hand (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Digital extensor muscle aplasia with polyneuropathy (disorder) Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Myoneural disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Digital extensor muscle aplasia with polyneuropathy (disorder) Finding site Peripheral nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Aplasia of muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Congenital anomaly of skeletal muscle (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Polyneuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Digital extensor muscle aplasia with polyneuropathy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Congenital anomaly of upper limb false Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Absence of upper limb (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Congenital absence of part of upper limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Congenital absence of skeletal muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a Aplasia of limb true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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