11182007: Abnormally short growth (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\...

\Abnormal shape (morphologic abnormality)\Deformity (morphologic abnormality)\Abnormal shortening\Abnormally short growth

\Mechanical abnormality\Deformity (morphologic abnormality)\Abnormal shortening\Abnormally short growth

\Growth alteration\Abnormally short growth

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

2610991000005112 abnormt kort vækst da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abnormally short growth	Is a	kongenit vækstændring	false	Inferred relationship	Some
Abnormally short growth	Is a	Abnormal shortening	true	Inferred relationship	Some
Abnormally short growth	Is a	Growth alteration	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectromelia of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Brachymetatarsia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of metacarpal bone	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Manus extensa	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Manus extensa	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
hemimeli	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Transverse deficiency of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	4
Transverse deficiency of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Brachyphalangia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of foot	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Symbrachydactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of carpal bone	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Ectromelia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Brachydactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Reduction deformity of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Reduction deformity of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Congenital shortening of tendon	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of femur	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Congenital absence of femur	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
kongenit forkortet ben	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of humerus	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of humerus	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Manus vara	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Manus vara	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Brachymetapodia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of all fingers	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	4
Dysmorphic sialidosis, infantile form	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Complete phocomelia of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Kongenit forkortet af arm	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Partial aphalangia of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of radius AND ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	3
Longitudinal deficiency of radius	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of radius	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Brachydactyly syndrome type E	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	2
Brachygnathism	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Hemimeli af overekstremitet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	4
Hemimeli af overekstremitet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Longitudinal deficiency of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Longitudinal deficiency of limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Congenital prognathism	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Mousepox	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Congenital absence of fibula	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Micromelia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Manus flexa	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Manus flexa	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Congenital short hard palate	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	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 (localized 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	Some	1
Brachymegalodactyly	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Brachymetacarpia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Reduction deformity of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Complete phocomelia of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Complete phocomelia of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Congenital absence of tibia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of hand	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Congenital absence of hand	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Congenital absence of radius	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	3
Congenital absence of radius	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	3
Congenital absence of radius	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Congenital absence of metatarsal bone	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of metatarsal bone	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital absence of tarsal bone	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Congenital absence of tarsal bone	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Bilateral acheiria	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Bilateral acheiria	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Bilateral congenital absence of feet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Bilateral congenital absence of feet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital hypoplasia of femur	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital hypoplasia of fibula	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital hypoplasia of humerus	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Congenital hypoplasia of humerus	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Congenital hypoplasia of tibia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital hypoplasia of ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Congenital short growth of innominate artery	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital short trunk	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenitally short snout	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Decreased anogenital distance	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital abnormal vertical shortness of eyelids	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Unilateral acheiria	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Unilateral acheiria	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Unilateral congenital absence of foot	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Short neck	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital short quadriceps	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Congenital amputation of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital amputation of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Kongenit manglende ben og fod	Associated morphology	False	Abnormally short growth	Inferred relationship	Some
Congenital complete absence of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital complete absence of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Brachydactyly-all 3 phalanges	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly-missing phalanx	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachyphalangia of little toe	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Brakymeli i ben	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Kongenit manglende fingre	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Kongenit manglende fingre	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Prognati, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
ektromeli af overekstremitet, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
ektromeli af overekstremitet, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
hemimeli af overekstremitet, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
hemimeli af overekstremitet, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5

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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
2610991000005112	abnormt kort vækst	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)