733637001: infantiele deficiëntie van 3-fosfoglyceraatdehydrogenase (aandoening)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\3-Phosphoglycerate dehydrogenase deficiency\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3472899015 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3472900013 3-phosphoglycerate dehydrogenase deficiency infantile form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6739171000146112 infantiele deficiëntie van 3-fosfoglyceraatdehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8721281000146110 infantiele deficiëntie van 3-fosfoglyceraatdehydrogenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8721291000146112 infantiele 3-fosfoglyceraatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3472901012 An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	microcefalie	false	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	3-Phosphoglycerate dehydrogenase deficiency	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	2
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3472899015	3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472900013	3-phosphoglycerate dehydrogenase deficiency infantile form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6739171000146112	infantiele deficiëntie van 3-fosfoglyceraatdehydrogenase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8721281000146110	infantiele deficiëntie van 3-fosfoglyceraatdehydrogenase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8721291000146112	infantiele 3-fosfoglyceraatdehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3472901012	An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core