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
Stimmler syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Pseudoprogeria syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephalus, lymphedema, chorioretinopathy syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus, digital anomaly, intellectual disability syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Reconstruction of microtia with free flap (procedure)	Direct morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Reconstruction of microtia with free flap and microvascular anastomosis	Direct morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microphthalmic socket (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Spastic ataxia with congenital miosis	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Sporadic fetal brain disruption sequence	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Cleft palate, large ears, small head syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Bilateral polymicrogyria (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalic primordial dwarfism Montreal type	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Nijmegen breakage syndrome-like disorder (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalic primordial dwarfism Dauber type	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalic primordial dwarfism Alazami type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Polymicrogyria with optic nerve hypoplasia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Severe neonatal onset encephalopathy with microcephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Hall Riggs syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microtia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
SOX2 anophthalmia syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Oculopalatocerebral syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microlissencephaly micromelia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Jawad syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Bilateral microtia with deafness and cleft palate 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	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (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	1
Microspherophakia (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Coxoauricular syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Thrombocytopathy, asplenia and miosis (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Pseudoprogeria 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	2
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Cataract and microcornea syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus cleft palate syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Hadziselimovic syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Thickened earlobe with conductive deafness syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Micromelic spondyloepimetaphyseal dysplasia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Filippi syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Lowry MacLean syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Short rib polydactyly syndrome type I (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Macrosomia, microphthalmia, cleft palate syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Autosomal dominant primary microcephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Reconstruction of microtia with microvascular anastomosis (procedure)	Direct morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Reconstruction of microtia with flap (procedure)	Direct morphology	False	congenitale kleinheid	Inferred relationship	Some	1

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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)