234638009: microcefalie, normale intelligentie en immunodeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\Microcephaly, normal intelligence and immunodeficiency

\Hereditary disorder by system\Hereditary disorder of immune system\Microcephaly, normal intelligence and immunodeficiency

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Microcephaly, normal intelligence and immunodeficiency
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Microcephaly, normal intelligence and immunodeficiency

\Disorder of body system\Disorder of immune structure (disorder)\Microcephaly, normal intelligence and immunodeficiency
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Microcephaly, normal intelligence and immunodeficiency

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

351577014 Microcephaly, normal intelligence and immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351578016 Nijmegen breakage syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

351579012 NBS - Nijmegen breakage syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

351580010 Seemanova syndrome II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

622985016 Microcephaly, normal intelligence and immunodeficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6525011000146119 NBS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6525021000146112 ataxia-telangiectasia-variant 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6525031000146114 Nijmegen-breuksyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6525041000146118 ataxie-teleangiëctasie-variant type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6525051000146115 syndroom van Seemanova nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6525061000146117 microcefalie, normale intelligentie en immuundeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6525081000146113 Berlin breakage syndrome nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7068981000146112 microcefalie, normale intelligentie en immunodeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7069691000146111 microcefalie, normale intelligentie en immunodeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, normal intelligence and immunodeficiency	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Microcephaly, normal intelligence and immunodeficiency	Is a	Disorder of immune structure (disorder)	true	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Associated with	Chromosomal disorder (disorder)	true	Inferred relationship	Some	3
Microcephaly, normal intelligence and immunodeficiency	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

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Characteristic

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This concept is not in any reference sets