41086002: congenitale kleinheid (afwijkende morfologie)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale kleinheid	Is a	congenitale verandering in groei (afwijkende morfologie)	false	Inferred relationship	Some
congenitale kleinheid	Is a	Growth alteration	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microgenia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
microftalmie bij andere afwijkingen van oog en/of adnexen	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
benigne autosomaal dominante microcefalie	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Secondary microcephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
microcephalia vera	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Congenital microcheilia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microstomia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Cross syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
microcefalie	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Microcolon	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Dysplasia of eye (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcornea	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphakia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microgyria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Micromelia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Jeune thoracic dystrophy (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Neu-Laxova syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Hydromicrocephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Congenital microgastria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Hypoplasia of eye	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital thread-like tail	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microhepatia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital narrowed tail	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital small anus	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microdactyly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenitally small punctum lacrimale	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Micrencephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Simple microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus NOS	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some
Microphthalmos, unspecified	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Unspecified microphthalmos NOS	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos with other eye anomaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos NOS	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microspherophakia (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microhepatia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Simple microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microcheilia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microgenia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital thread-like tail	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Unspecified microphthalmos NOS	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microgyria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos with other eye anomaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenitally small punctum lacrimale	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphakia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
microftalmie bij andere afwijkingen van oog en/of adnexen	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital small anus	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital narrowed tail	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Hypoplasia of eye	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos, unspecified	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos NOS	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microgastria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcolon	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcornea	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Jeune thoracic dystrophy (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Lenz microphthalmia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital bilateral perisylvian syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital bilateral perisylvian syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Lenz microphthalmia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Micromelia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microgenia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Cross syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
microcefalie	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Dysplasia of eye (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Simple microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
benigne autosomaal dominante microcefalie	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Secondary microcephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
microcephalia vera	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
microftalmie bij andere afwijkingen van oog en/of adnexen	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalic osteodysplastic dysplasia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Fetal microcephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Lenz microphthalmia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Neu-Laxova syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Hydromicrocephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Hypoplasia of eye	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Amish lethal microcephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Lenz microphthalmia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Simple microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Dysplasia of eye (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Cross syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Hypoplasia of eye	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
microftalmie bij andere afwijkingen van oog en/of adnexen	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microcheilia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Congenital small anus	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Uterus parvicollis	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Jeune thoracic dystrophy (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephaly-capillary malformation syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Congenital microcheilia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Uterus parvicollis	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcornea	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microgyria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microphakia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Congenital microhepatia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microgastria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital miosis (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenitally small punctum lacrimale	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4

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Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
68540011	Congenital smallness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777834016	Congenital smallness (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1191381000146110	congenitale kleinheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1191391000146112	congenitale kleinheid (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)