FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

41086002: Congenital smallness (morphologic abnormality)

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital smallness est un(e) (attribut) modification de la croissance true Inferred relationship Some
Congenital smallness est un(e) (attribut) Congenital growth alteration false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Microstomia morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microcephalus, lymphedema, chorioretinopathy syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalus, digital anomaly, intellectual disability syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts morphologie associée (attribut) False Congenital smallness Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Deficiency of leukotriene C4 synthase (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Cross syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
microcéphalie morphologie associée (attribut) False Congenital smallness Inferred relationship Some
Microcolon morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Dysplasia of eye morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microcornea morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphakia morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with free flap (procedure) Direct morphology True Congenital smallness Inferred relationship Some 1
microgyrie (trouble) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology False Congenital smallness Inferred relationship Some 2
Microphthalmic socket (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphthalmos morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Micromelia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
dystrophie thoracique asphyxiante morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Neu-Laxova syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some
Hydromicrocephaly morphologie associée (attribut) False Congenital smallness Inferred relationship Some
Congenital microgastria morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Hypoplasia of eye morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Spastic ataxia with congenital miosis morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Sporadic fetal brain disruption sequence morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital thread-like tail morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital microhepatia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital narrowed tail morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital small anus morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Oro-facial digital syndrome type 14 morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Microcephalus, complex motor and sensory axonal neuropathy syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Cleft palate, large ears, small head syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Oro-facial digital syndrome type 14 morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microdactyly morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Bilateral polymicrogyria (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalic primordial dwarfism Montreal type morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Nijmegen breakage syndrome-like disorder (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenitally small punctum lacrimale morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Polymicrogyria with optic nerve hypoplasia morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Micrencephaly morphologie associée (attribut) False Congenital smallness Inferred relationship Some
Simple microphthalmos morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1

Start Previous Page 4 of 4

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start