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
Congenitally small punctum lacrimale	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microspherophakia (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Fetal microcephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Congenital bilateral perisylvian syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Thrombocytopathy, asplenia and miosis (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Neu-Laxova syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
benigne autosomaal dominante microcefalie	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
microcephalia vera	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalic osteodysplastic dysplasia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
microcefalie	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Secondary microcephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephaly-capillary malformation syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalic primordial dwarfism of Toriello type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
SOX2 anophthalmia syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalus microcornea syndrome of Seemanova type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalus microcornea syndrome of Seemanova type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Micromelic spondyloepimetaphyseal dysplasia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
oculocerebrale dysplasie	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Nanophthalmia (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Aphalangy and syndactyly with microcephaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Autosomal recessive primary microcephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Unilateral polymicrogyria (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Micromelia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Achalasia microcephaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	8
Microcephalus cleft palate syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microcephalus with albinism and digital anomaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	12
Microcornea with corectopia and macular hypoplasia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Hadziselimovic syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	7
Microphthalmia with brain atrophy syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Anonychia with microcephaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Aphalangy and syndactyly with microcephaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Anonychia with microcephaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Filippi syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Hall Riggs syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Congenital microgastria with limb reduction defect syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microtia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	7
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Lowry MacLean syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Unilateral polymicrogyria (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Isotretinoin embryopathy-like syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Congenital intrauterine infection-like syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Oculopalatocerebral syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Cataract and microcornea syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Congenital intrauterine infection-like syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	9
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Thickened earlobe with conductive deafness syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Goldberg Shprintzen megacolon syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	7
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microlissencephaly micromelia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	7
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Renier-Gabreels-Jasper-syndroom	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Renier-Gabreels-Jasper-syndroom	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephalic primordial dwarfism of Toriello type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	6
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Short rib polydactyly syndrome type I (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Coxoauricular syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Stimmler syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Stimmler syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3

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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)