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41086002: Congenital smallness (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. 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
    2794341000005116 kongenit lille statur da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit lille statur Is a kongenit vækstændring false Inferred relationship Some
    kongenit lille statur Is a Growth alteration false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Microgenia Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi associeret med andre anomalier i øje OG/ELLER adnexa Associated morphology False kongenit lille statur Inferred relationship Some 1
    Benign autosomal dominant mikrocefali Associated morphology False kongenit lille statur Inferred relationship Some
    Secondary microcephaly Associated morphology False kongenit lille statur Inferred relationship Some
    primær mikrocefali Associated morphology False kongenit lille statur Inferred relationship Some
    Congenital microcheilia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microstomia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False kongenit lille statur Inferred relationship Some
    Cross syndrome Associated morphology False kongenit lille statur Inferred relationship Some 2
    Mikrocefalus Associated morphology False kongenit lille statur Inferred relationship Some
    Microcolon Associated morphology False kongenit lille statur Inferred relationship Some 1
    Dysplasia of eye Associated morphology False kongenit lille statur Inferred relationship Some 2
    Microcornea Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microphakia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microgyria Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 1
    Micromelia Associated morphology False kongenit lille statur Inferred relationship Some 1
    A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. Associated morphology False kongenit lille statur Inferred relationship Some 2
    A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner. Associated morphology False kongenit lille statur Inferred relationship Some
    Hydromicrocephaly Associated morphology False kongenit lille statur Inferred relationship Some
    Congenital microgastria Associated morphology False kongenit lille statur Inferred relationship Some 1
    Hypoplasia of eye (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital thread-like tail Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital microhepatia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital narrowed tail Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital small anus Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microdactyly Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenitally small punctum lacrimale Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikrocefali Associated morphology False kongenit lille statur Inferred relationship Some
    Simple microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikrocefalus, ikke nærmere specificeret Associated morphology False kongenit lille statur Inferred relationship Some
    mikroftalmi, uspecificeret Associated morphology False kongenit lille statur Inferred relationship Some 1
    uspecificeret mikroftalmi, ikke nærmere specificeret Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi med anden øjenanomali Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi, ikke nærmere specificeret Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microspherophakia (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital microhepatia Associated morphology False kongenit lille statur Inferred relationship Some 3
    Simple microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital microcheilia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microgenia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital thread-like tail Associated morphology False kongenit lille statur Inferred relationship Some 1
    uspecificeret mikroftalmi, ikke nærmere specificeret Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microgyria Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi med anden øjenanomali Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenitally small punctum lacrimale Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microphakia Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi associeret med andre anomalier i øje OG/ELLER adnexa Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital small anus Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital narrowed tail Associated morphology False kongenit lille statur Inferred relationship Some 1
    Hypoplasia of eye (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi, uspecificeret Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi, ikke nærmere specificeret Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital microgastria Associated morphology False kongenit lille statur Inferred relationship Some 3
    Microcolon Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microcornea Associated morphology False kongenit lille statur Inferred relationship Some 1
    A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. Associated morphology False kongenit lille statur Inferred relationship Some 2
    Lenz microphthalmia syndrome (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital bilateral perisylvian syndrome (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital bilateral perisylvian syndrome (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Lenz microphthalmia syndrome (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Micromelia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microgenia Associated morphology False kongenit lille statur Inferred relationship Some 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False kongenit lille statur Inferred relationship Some 4
    Cross syndrome Associated morphology False kongenit lille statur Inferred relationship Some 4
    Mikrocefalus Associated morphology False kongenit lille statur Inferred relationship Some 1
    Dysplasia of eye Associated morphology False kongenit lille statur Inferred relationship Some 3
    Simple microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 2
    Benign autosomal dominant mikrocefali Associated morphology False kongenit lille statur Inferred relationship Some 1
    Secondary microcephaly Associated morphology False kongenit lille statur Inferred relationship Some 1
    primær mikrocefali Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi associeret med andre anomalier i øje OG/ELLER adnexa Associated morphology False kongenit lille statur Inferred relationship Some 2
    Mikrocefalisk osteodysplastisk dysplasi Associated morphology False kongenit lille statur Inferred relationship Some 2
    Fetal microcephaly (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Lenz microphthalmia syndrome (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 2
    Microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 2
    A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner. Associated morphology False kongenit lille statur Inferred relationship Some 1
    Hydromicrocephaly Associated morphology False kongenit lille statur Inferred relationship Some 2
    Hypoplasia of eye (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 2
    Amish lethal microcephaly (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Lenz microphthalmia syndrome (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Simple microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 1
    Dysplasia of eye Associated morphology False kongenit lille statur Inferred relationship Some 2
    Microphthalmos Associated morphology False kongenit lille statur Inferred relationship Some 1
    Cross syndrome Associated morphology False kongenit lille statur Inferred relationship Some 2
    Hypoplasia of eye (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    mikroftalmi associeret med andre anomalier i øje OG/ELLER adnexa Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital microcheilia Associated morphology False kongenit lille statur Inferred relationship Some 2
    Congenital small anus Associated morphology False kongenit lille statur Inferred relationship Some 3
    Uterus parvicollis Associated morphology False kongenit lille statur Inferred relationship Some 2
    A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. Associated morphology False kongenit lille statur Inferred relationship Some 3
    Microcephaly-capillary malformation syndrome Associated morphology False kongenit lille statur Inferred relationship Some 2
    Congenital microcheilia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Uterus parvicollis Associated morphology False kongenit lille statur Inferred relationship Some 1
    Microcornea Associated morphology False kongenit lille statur Inferred relationship Some 3
    Microgyria Associated morphology False kongenit lille statur Inferred relationship Some 3
    Microphakia Associated morphology False kongenit lille statur Inferred relationship Some 3
    Congenital microhepatia Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital microgastria Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenital miosis (disorder) Associated morphology False kongenit lille statur Inferred relationship Some 1
    Congenitally small punctum lacrimale Associated morphology False kongenit lille statur Inferred relationship Some 4

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    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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