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11182007: Abnormally short growth (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
19368017 Abnormally short growth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
633868015 Abnormally short growth (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
19368017 Abnormally short growth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
19368017 Abnormally short growth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
633868015 Abnormally short growth (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
633868015 Abnormally short growth (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
Abnormally short growth Is a Congenital growth alteration false Inferred relationship Existential restriction modifier (core metadata concept)
Abnormally short growth Is a Abnormal shortening true Inferred relationship Existential restriction modifier (core metadata concept)
Abnormally short growth Is a Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Longitudinal absence of radius AND ulna Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Longitudinal absence of radius AND ulna Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelia of lower limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelia of lower limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrodysostosis Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrodysostosis Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency lower limb - knee level Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Transverse deficiency lower limb - knee level Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymetapodia of fourth metatarsal Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymetapodia of fourth metatarsal Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Transverse deficiency of lower limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of lower limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
hémimélie d'un membre inférieur Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
hémimélie d'un membre inférieur Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Longitudinal deficiency of radius AND ulna Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of radius AND ulna Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymetapody Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymetapody Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymetapodia of first metatarsal Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymetapodia of first metatarsal Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Symbrachydactyly Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Symbrachydactyly Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachyphalangia of little toe (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Symbrachydactyly Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Microdactyly Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency lower limb - metatarsal level Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
raccourcissement congénital d'une jambe Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
microsomie partielle Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly syndrome type C Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly syndrome type B (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete phocomelia of lower limb (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Other specified reduction deformities of lower limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymelia NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Reduction deformity of unspecified limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital shortening of tendon Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Reduction deformity of lower limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of metacarpal bone Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other reduction defects of unspecified limb(s) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal reduction deformity of lower limb NEC Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelia of unspecified limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital short quadriceps (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Other specified reduction deformities of unspecified limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of foot Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectromelia of unspecified limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymetacarpia (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of phalanges of foot Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly syndrome type E Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Longitudinal deficiency of phalanges of hand (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymesophalangia Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of ulna Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other reduction defects of lower limb(s) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia of lower limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
anomalie longitudinale d'un metatarsien Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly of toes Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectromelia of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Longitudinal deficiency of lower limb (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital short Achilles tendon Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of tibia (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Short neck Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
anomalie transverse du bras au niveau de l'avant-bras Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of leg NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of arm, upper arm level - long (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Limb reduction-ichthyosis syndrome Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Transverse deficiency of arm, upper arm level - short Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of arm NEC Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of fibula Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Unspecified congenital shortening of arm NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectromelia of lower limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of humerus Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachyphalangia Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of arm NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Prognathism NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Unspecified congenital leg shortening NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency lower limb - unspecified Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Decreased anogenital distance (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
membre inférieur et pelvis absents Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemimelia of lower limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital shortening of arm, unspecified Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Longitudinal absence of radius AND ulna Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 4
Longitudinal deficiency of arm NEC NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly-missing phalanx Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Symbrachydactyly Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly-all 3 phalanges Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
membre atrophié Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
museau court congénital Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly of hand (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital short growth of innominate artery Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectromelia Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Reduction deformity of unspecified limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
raccourcissement congénital d'un bras Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital short trunk Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency lower limb - through tibia/fibula Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1

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