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
Microlissencephaly morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphthalmos due to Fryns syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphthalmos due to Delleman syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Micromelic dwarfism Fryn type morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenital microcephaly (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Stimmler syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
syndrome de Jawad morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenital microencephaly (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology True Congenital smallness Inferred relationship Some 3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic primordial dwarfism type II morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
19p13.3 microduplication syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Isolated microspherophakia (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Syndromic nanophthalmos due to Kenny-Caffey syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microspherophakia (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital microhepatia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Simple microphthalmos morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital microcheilia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microgenia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital thread-like tail morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Unspecified microphthalmos NOS morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
microgyrie (trouble) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos with other eye anomaly morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenitally small punctum lacrimale morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphakia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos associated with other anomalies of eye AND/OR adnexa morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital small anus morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital narrowed tail morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Hypoplasia of eye morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos, unspecified morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos NOS morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital microgastria morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microcolon morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcornea morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
dystrophie thoracique asphyxiante morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Lenz microphthalmia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital bilateral perisylvian syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital bilateral perisylvian syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Lenz microphthalmia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Micromelia morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microgenia 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 4
Cross syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
microcéphalie morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Dysplasia of eye morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Simple microphthalmos morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
microcéphalie autosomique dominante bénigne morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
microcéphalie secondaire morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
microcéphalie primitive morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos associated with other anomalies of eye AND/OR adnexa morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Fetal microcephaly (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Lenz microphthalmia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microphthalmos morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Neu-Laxova syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Hydromicrocephaly morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Hypoplasia of eye morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microgenia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Amish lethal microcephaly (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Lenz microphthalmia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Simple microphthalmos morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Dysplasia of eye morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microphthalmos morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Cross syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Hypoplasia of eye morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos associated with other anomalies of eye AND/OR adnexa morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenital microcheilia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Congenital small anus morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Uterus parvicollis morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
dystrophie thoracique asphyxiante morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microcephaly-capillary malformation syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microphthalmos associated with other anomalies of eye AND/OR adnexa morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
microcéphalie autosomique dominante bénigne morphologie associée (attribut) False Congenital smallness Inferred relationship Some
microcéphalie secondaire morphologie associée (attribut) False Congenital smallness Inferred relationship Some
Congenital microcheilia morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Uterus parvicollis morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcornea morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
microgyrie (trouble) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microphakia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
microcéphalie primitive morphologie associée (attribut) False Congenital smallness Inferred relationship Some
Congenital microhepatia morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenital microcheilia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Congenital microgastria morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenital miosis (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenitally small punctum lacrimale morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Microspherophakia (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4

Start Page 2 of 4 Next End

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start