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
Longitudinal absence of radius AND ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	5
Longitudinal absence of radius AND ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	3
Transverse deficiency lower limb - hip level	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Transverse deficiency lower limb - hip level	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Acrodysostosis	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	2
Acrodysostosis	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Transverse deficiency lower limb - knee level	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Transverse deficiency lower limb - knee level	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachymetapodia i 4. metatarsalknogle	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachymetapodia i 4. metatarsalknogle	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Transverse deficiency of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Transverse deficiency of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
hemimeli af underekstremitet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
hemimeli af underekstremitet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Longitudinal deficiency of radius AND ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of radius AND ulna	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	2
Brachymetapodia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachymetapodia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Brachymetapodia i 1. metatarsalknogle	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachymetapodia i 1. metatarsalknogle	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Symbrachydactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Symbrachydactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachyphalangia of little toe	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Symbrachydactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Microdactyly	Associated morphology	True	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	False	Abnormally short growth	Inferred relationship	Some	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 (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	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 (localized 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	Some	1
Transverse deficiency lower limb - metatarsal level	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
kongenit forkortet ben	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Meromikrosomi	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly syndrome type C (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Complete phocomelia of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Andre specificerede reduktionsdeformiteter af underekstremitet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
brakymeli, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
reduktionsdeformitet af uspecificeret arm eller ben	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital shortening of tendon	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Mangelfuld udvikling af underekstremitet, ikke klassificeret andetsteds	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of metacarpal bone	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
[X]Other reduction defects of unspecified limb(s)	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Mangelfuld udvikling af underekstremitets længde, ikke klassificeret andetsteds	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Ameli af uspecificeret arm eller ben	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital short quadriceps	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Andre specificerede reduktionsdeformiteter af uspecificeret arm eller ben	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of foot	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Ektromeli af uspecificeret arm eller ben	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Brachymetacarpia	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
longitudinel ameli af phalanges i fod	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly syndrome type E	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Longitudinal deficiency of phalanges of hand	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Brachymesophalangia	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of ulna	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
[X]Other reduction defects of lower limb(s)	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Phocomelia of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
longitudinel ameli af metatarsalknogle	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly of toes	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Ectromelia of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Longitudinal deficiency of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Congenital short Achilles tendon	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of tibia	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Short neck	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Transverse deficiency of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Transversel ameli af arm på underarmsniveau	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
transvers mangelfuldhed af ben, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Transverse deficiency of arm, upper arm level - long	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Transverse deficiency of arm, upper arm level - short	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
longitudinal ameli af arm, ikke klassificeret andetsteds	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of fibula	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
uspecificeret kongenit forkortet arm, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Ektromeli af underekstremitet, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Longitudinal deficiency of humerus	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Brachyphalangia	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Manglende bredde af arm, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Prognati, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
uspecificeret kongenit forkortet ben, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
transversel ameli af underekstremitet, uspecificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Decreased anogenital distance	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Manglende pelvis og underekstremitet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Hemimeli af underekstremitet, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Kongenit forkortet arm, uspecificeret	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
Longitudinal absence of radius AND ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	4
longitudinel ameli af arm, ikke klassificeret andetsteds, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly-missing phalanx	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Symbrachydactyly	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly-all 3 phalanges	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
vissen ekstremitet	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenitally short snout	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Brachydactyly of hand (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Congenital short growth of innominate artery	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Ectromelia	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	2
Kongenit manglende arm eller ben, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Reduktionsdeformitet af uspecificeret arm eller ben, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Kongenit forkortet af arm	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Congenital short trunk	Associated morphology	True	Abnormally short growth	Inferred relationship	Some	1
Transverse deficiency lower limb - through tibia/fibula	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1
Hypoplasi i arm eller ben, ikke nærmere specificeret	Associated morphology	False	Abnormally short growth	Inferred relationship	Some	1

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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)