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41086002: Congenital smallness (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Growth alteration\Congenital smallness

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

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

1298491000052113 medfödd liten kroppsform sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital smallness	Is a	medfödd tillväxtförändring	false	Inferred relationship	Some
Congenital smallness	Is a	Growth alteration	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Reconstruction of microtia with flap (procedure)	Direct morphology	True	Congenital smallness	Inferred relationship	Some	1
Microphthalmos of right eye	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Microphthalmos of left eye	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Reconstruction of microtia with graft (procedure)	Direct morphology	True	Congenital smallness	Inferred relationship	Some	2
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	3
Occipital pachygyria and polymicrogyria (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	4
Reduction anomaly of hypothalamus (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Thrombocytopathy, asplenia and miosis (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	5
Neu-Laxova syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	4
Microcornea of bilateral eyes (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Microcornea of bilateral eyes (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Bilateral microphthalmos	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Bilateral microphthalmos	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Bilateral frontal polymicrogyria	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Bilateral frontoparietal polymicrogyria (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Bilateral generalized polymicrogyria (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Bilateral parasagittal parieto-occipital polymicrogyria	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Bilateral frontoparietal polymicrogyria (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Bilateral parasagittal parieto-occipital polymicrogyria	Associated morphology	True	Congenital smallness	Inferred relationship	Some	2
Microcephaly with simplified gyral pattern	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Microlissencephaly	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Microphthalmos due to Delleman syndrome (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Micromelic dwarfism Fryn type	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Congenital microcephaly (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Stimmler syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Jawad syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Congenital microencephaly (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Colobomatous macrophthalmia with microcornea syndrome (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	3
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Associated morphology	True	Congenital smallness	Inferred relationship	Some	1

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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
1298491000052113	medfödd liten kroppsform	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)