9105005: Muscle adenosine monophosphate deaminase deficiency (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Muscle AMP deaminase deficiency

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Muscle AMP deaminase deficiency

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency

\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Muscle AMP deaminase deficiency

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle AMP deaminase deficiency
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Muscle AMP deaminase deficiency
\Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Muscle AMP deaminase deficiency
\Disease\trouble métabolique\Disorder of purine and pyrimidine metabolism\troubles du métabolisme des purines\Muscle AMP deaminase deficiency
\Disease\trouble métabolique\Enzymopathy\Muscle AMP deaminase deficiency
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Muscle AMP deaminase deficiency

Status: current, Not 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

16029017 Muscle AMP deaminase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

16030010 Myoadenylate deaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

16031014 Myoadenylate deaminase deficiency myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

16032019 Muscle adenylate deaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2972643013 Muscle adenosine monophosphate deaminase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2972692019 Muscle adenosine monophosphate deaminase deficiency 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
Muscle AMP deaminase deficiency	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	est un(e) (attribut)	troubles du métabolisme des purines	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	est un(e) (attribut)	myopathie d'origine métabolique (trouble)	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	est un(e) (attribut)	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Muscle AMP deaminase deficiency	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Muscle AMP deaminase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada French language reference set (foundation metadata concept)