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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
Ectromelia of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachymetatarsia Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of metacarpal bone Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Manus extensa Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Manus extensa Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
hémimélie Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Transverse deficiency of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 4
Transverse deficiency of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachyphalangia Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of foot Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Symbrachydactyly Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of carpal bone Associated morphology False 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
Brachydactyly Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of ulna Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Reduction deformity of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Reduction deformity of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital shortening of tendon Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of femur Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of femur 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
Congenital absence of humerus Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of humerus Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Manus vara (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Manus vara (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachymetapody Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of all fingers (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysmorphic sialidosis, infantile form (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of ulna (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Complete phocomelia of lower limb (disorder) 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
Partial aphalangia of lower limb (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of radius AND ulna Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 3
Longitudinal deficiency of radius (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Longitudinal deficiency of radius (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachydactyly syndrome type E Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachygnathism Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
hémimélie d'un membre supérieur Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 4
hémimélie d'un membre supérieur Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Longitudinal deficiency of lower limb (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Longitudinal deficiency of limb 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
Congenital prognathism Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Mousepox Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of fibula Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Manus flexa Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Manus flexa Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital short hard palate Associated morphology False 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 True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymegalodactyly Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymetacarpia (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Reduction deformity of lower limb (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete phocomelia of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete phocomelia of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital absence of tibia Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of hand Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of hand Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital absence of radius Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of radius Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of radius Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital absence of metatarsal bone (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of metatarsal bone (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of tarsal bone Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of tarsal bone Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral acheiria Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Bilateral acheiria Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital absence of feet Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital absence of feet Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of femur Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of fibula Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of humerus Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of humerus Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital hypoplasia of tibia Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ulna Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital short growth of innominate artery Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital short trunk 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
Decreased anogenital distance (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Microblepharia (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Unilateral acheiria Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Unilateral acheiria Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Unilateral congenital absence of foot Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Short neck Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital short quadriceps (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital amputation of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital amputation of upper limb Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital absence of leg and foot Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly-all 3 phalanges Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly-missing phalanx Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachyphalangia of little toe (disorder) Associated morphology True Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
brachymélie de la jambe Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of fingers Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of fingers Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Prognathism NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectromelia of upper limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectromelia of upper limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5
Hemimelia of upper limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemimelia of upper limb NOS Associated morphology False Abnormally short growth Inferred relationship Existential restriction modifier (core metadata concept) 5

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