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
Reconstruction of microtia with flap (procedure)	Direct morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos of right eye	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos of left eye	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Reconstruction of microtia with graft (procedure)	Direct morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Occipital pachygyria and polymicrogyria (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Reduction anomaly of hypothalamus	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Thrombocytopathy, asplenia and miosis (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	5
Neu-Laxova syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microcornea of bilateral eyes (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcornea of bilateral eyes (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Bilateral microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Bilateral microphthalmos	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Bilateral frontal polymicrogyria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Bilateral frontoparietal polymicrogyria (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Bilateral generalized polymicrogyria (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Bilateral parasagittal parieto-occipital polymicrogyria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Bilateral frontoparietal polymicrogyria (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Bilateral parasagittal parieto-occipital polymicrogyria	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephaly with simplified gyral pattern	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microlissencephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microphthalmos due to Delleman syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Micromelic dwarfism Fryn type	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microcephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Stimmler syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Jawad syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital microencephaly (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Colobomatous macrophthalmia with microcornea syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Associated 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	3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism type II	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
19p13.3 microduplication syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Isolated microspherophakia (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	3
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
NDE1-related microhydranencephaly	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Cerebellar-facial-dental syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital cataract microcornea with corneal opacity	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Short rib polydactyly syndrome type 5	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	2
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	4
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 14	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Fetal microcephaly in pregnancy	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	False	congenitale kleinheid	Inferred relationship	Some	1

Start Previous Page 4 of 4

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

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)