81604003: syndroom van dwerggroei met afwijkingen van spier, lever, hersenen en oog (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mulibrey nanism syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mulibrey nanism syndrome

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

135361011 Mulibrey nanism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

135362016 Perheentupa syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

822894013 Mulibrey nanism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3637318013 Muscle, liver, brain, eye nanism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6694611000146113 Perheentupa-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6694631000146118 MULIBREY-nanisme nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6694641000146114 MULIBREY-groeistoornis nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6694651000146112 syndroom van Perheentupa nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8467871000146117 syndroom van dwerggroei met afwijkingen van spier, lever, hersenen en oog nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8467881000146115 syndroom van dwerggroei met afwijkingen van spier, lever, hersenen en oog (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8467891000146118 syndroom van nanisme met spier-, lever-, hersen- en oogafwijkingen 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
Mulibrey nanism syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Mulibrey nanism syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Mulibrey nanism syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Mulibrey nanism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Mulibrey nanism syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Mulibrey nanism syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Mulibrey nanism syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pericarditis secondary to Mulibrey nanism	Is a	True	Mulibrey nanism syndrome	Inferred relationship	Some
Pericarditis secondary to Mulibrey nanism	Associated with	False	Mulibrey nanism syndrome	Inferred relationship	Some
Pericarditis secondary to Mulibrey nanism	Due to	True	Mulibrey nanism syndrome	Inferred relationship	Some	3

This concept is not in any reference sets