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41086002: Congenital smallness (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
68540011 Congenital smallness en Synonym Active Case insensitive SNOMED CT core
777834016 Congenital smallness (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital smallness Is a Growth alteration true Inferred relationship Some
Congenital smallness Is a Congenital growth alteration false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Microlissencephaly Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmos due to Fryns syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmos due to Delleman syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Micromelic dwarfism Fryn type Associated morphology True Congenital smallness Inferred relationship Some 1
Congenital microcephaly 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 Associated morphology True Congenital smallness Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Mikati Najjar Sahli syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
TELO2-related intellectual disability, neurodevelopmental 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 Associated morphology True Congenital smallness Inferred relationship Some 3
Microcephalic cortical malformations, short stature due to RTTN deficiency 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
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 Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic primordial dwarfism type II Associated morphology True Congenital smallness Inferred relationship Some 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalic primordial dwarfism, insulin resistance syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
RNF13-related severe early-onset epileptic encephalopathy Associated morphology True Congenital smallness Inferred relationship Some 1
19p13.3 microduplication syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Isolated microspherophakia Associated morphology True Congenital smallness Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Congenital smallness Inferred relationship Some 4
Syndromic nanophthalmos due to Kenny-Caffey syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
DONSON-related microcephaly, short stature, limb abnormalities spectrum Associated morphology True Congenital smallness Inferred relationship Some 2
NDE1-related microhydranencephaly Associated morphology True Congenital smallness Inferred relationship Some 1
Cerebellar-facial-dental syndrome Associated morphology True Congenital smallness Inferred relationship Some 4
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microspherophakia Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital microhepatia Associated morphology False Congenital smallness Inferred relationship Some 3
Simple microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital microcheilia Associated morphology False Congenital smallness Inferred relationship Some 1
Microgenia Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital thread-like tail Associated morphology False Congenital smallness Inferred relationship Some 1
Unspecified microphthalmos NOS Associated morphology False Congenital smallness Inferred relationship Some 1
Microgyria Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos with other eye anomaly Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 1
Congenitally small punctum lacrimale Associated morphology False Congenital smallness Inferred relationship Some 1
Microphakia Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos associated with other anomalies of eye AND/OR adnexa Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital small anus Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital narrowed tail Associated morphology False Congenital smallness Inferred relationship Some 1
Hypoplasia of eye Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos, unspecified Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos NOS Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital microgastria Associated morphology False Congenital smallness Inferred relationship Some 3
Microcolon Associated morphology True Congenital smallness Inferred relationship Some 1
Microcornea Associated morphology False Congenital smallness Inferred relationship Some 1
Jeune thoracic dystrophy Associated morphology False Congenital smallness Inferred relationship Some 2
Lenz microphthalmia syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital bilateral perisylvian syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital bilateral perisylvian syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Lenz microphthalmia syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Micromelia Associated morphology True Congenital smallness Inferred relationship Some 1
Microgenia Associated morphology False Congenital smallness Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital smallness Inferred relationship Some 4
Cross syndrome Associated morphology False Congenital smallness Inferred relationship Some 4
Microcephalus Associated morphology False Congenital smallness Inferred relationship Some 1
Dysplasia of eye Associated morphology False Congenital smallness Inferred relationship Some 3
Simple microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 2
Benign autosomal dominant microcephaly Associated morphology False Congenital smallness Inferred relationship Some 1
Secondary microcephaly Associated morphology False Congenital smallness Inferred relationship Some 1
Primary microcephaly Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos associated with other anomalies of eye AND/OR adnexa Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia Associated morphology False Congenital smallness Inferred relationship Some 2
Fetal microcephaly Associated morphology False Congenital smallness Inferred relationship Some 1
Lenz microphthalmia syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 2
Neu-Laxova syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Hydromicrocephaly Associated morphology True Congenital smallness Inferred relationship Some 2
Hypoplasia of eye Associated morphology False Congenital smallness Inferred relationship Some 2
Microgenia Associated morphology False Congenital smallness Inferred relationship Some 1
Amish lethal microcephaly Associated morphology True Congenital smallness Inferred relationship Some 1
Lenz microphthalmia syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Simple microphthalmos Associated morphology True Congenital smallness Inferred relationship Some 1
Dysplasia of eye Associated morphology True Congenital smallness Inferred relationship Some 2
Microphthalmos Associated morphology True Congenital smallness Inferred relationship Some 1
Cross syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Hypoplasia of eye Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos associated with other anomalies of eye AND/OR adnexa Associated morphology True Congenital smallness Inferred relationship Some 1
Congenital microcheilia Associated morphology False Congenital smallness Inferred relationship Some 2
Congenital small anus Associated morphology False Congenital smallness Inferred relationship Some 3
Uterus parvicollis Associated morphology False Congenital smallness Inferred relationship Some 2
Jeune thoracic dystrophy Associated morphology False Congenital smallness Inferred relationship Some 3
Microcephaly-capillary malformation syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Microphthalmos associated with other anomalies of eye AND/OR adnexa Associated morphology False Congenital smallness Inferred relationship Some 1
Benign autosomal dominant microcephaly Associated morphology False Congenital smallness Inferred relationship Some
Secondary microcephaly Associated morphology False Congenital smallness Inferred relationship Some
Congenital microcheilia Associated morphology True Congenital smallness Inferred relationship Some 1
Uterus parvicollis Associated morphology True Congenital smallness Inferred relationship Some 1
Microcornea Associated morphology False Congenital smallness Inferred relationship Some 3
Microgyria Associated morphology False Congenital smallness Inferred relationship Some 3
Microphakia Associated morphology False Congenital smallness Inferred relationship Some 3
Primary microcephaly Associated morphology False Congenital smallness Inferred relationship Some
Congenital microhepatia Associated morphology True Congenital smallness Inferred relationship Some 1
Congenital microcheilia Associated morphology False Congenital smallness Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

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