FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  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
Microspherophakia (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Fetal microcephaly (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Congenital bilateral perisylvian syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Thrombocytopathy, asplenia and miosis (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Neu-Laxova syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
microcéphalie autosomique dominante bénigne morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
microcéphalie primitive morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
microcéphalie morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
microcéphalie secondaire morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microcephaly-capillary malformation syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Amish lethal microcephaly (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalic primordial dwarfism of Toriello type (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
SOX2 anophthalmia syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
microcéphalie-microcornée type Seemanova morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
microcéphalie-microcornée type Seemanova morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Micromelic spondyloepimetaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Oculocerebral dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Nanophthalmia (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Aphalangy and syndactyly with microcephaly syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Autosomal recessive primary microcephaly (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Unilateral polymicrogyria (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Micromelia morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Achalasia microcephaly syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Microcephalus cardiomyopathy syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 8
Microcephalus cleft palate syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Microcephalus with albinism and digital anomaly syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 12
Microcornea with corectopia and macular hypoplasia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Hadziselimovic syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 7
Microphthalmia with brain atrophy syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Aphalangy and syndactyly with microcephaly syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Filippi syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Hall Riggs syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microphthalmia with linear skin defect syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Congenital microgastria with limb reduction defect syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
microtie (trouble) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 7
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Microphthalmia with linear skin defect syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Lowry MacLean syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Unilateral polymicrogyria (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Oculocerebrofacial syndrome Kaufman type (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
syndrome de pseudo-infection intra-utérine congénitale morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Oculopalatocerebral syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Cataract and microcornea syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
syndrome de pseudo-infection intra-utérine congénitale morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
syndrome d'agénésie du corps calleux-microcéphalie-petite taille morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 9
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Thickened earlobe with conductive deafness syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 7
Severe X-linked intellectual disability Gustavson type (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Microlissencephaly micromelia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 7
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Renier Gabreels Jasper syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Renier Gabreels Jasper syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microcephalic primordial dwarfism of Toriello type (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) False Congenital smallness Inferred relationship Some 6
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Short rib polydactyly syndrome type I (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Coxoauricular syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 4
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Stimmler syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5
Stimmler syndrome morphologie associée (attribut) False Congenital smallness Inferred relationship Some 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 5

Start Previous Page 3 of 4 End

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start