11182007: Abnormally short growth (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure\...

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

\Mechanical abnormality (morphologic 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:

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
symbrachydactylie	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of tibia AND/OR fibula	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)	2
Brachygnathism	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Reduction deformity of lower limb (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Longitudinal deficiency of fibula	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Longitudinal deficiency of radius (disorder)	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)	2
Ectromelia	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly-all 3 phalanges	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachymetacarpia (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Micromelia (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Phocomelia of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Synbrachydactyly of hand	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Proximal femoral focal deficiency	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Roberts-SC phocomelia syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
microsomie partielle	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type E	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Acrodysostosis	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Ectromelia of upper limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Weill-Marchesani syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Longitudinal deficiency of radius AND ulna	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachymetatarsia	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital short growth of innominate artery	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital short trunk	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly	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 undergrowth of partial lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital undergrowth of whole of lower limb	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachymetapody	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Brachymetapodia of first metatarsal	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Symbrachydactyly of toe (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachymetapodia of fourth metatarsal	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital short urethra (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital undergrowth of foot	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Symbrachydactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachymetapody	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachymetapody	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Longitudinal deficiency of lower limb (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of upper limb	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)	6
Congenital short quadriceps (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachymetapodia of first metatarsal	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachymetapodia of fourth metatarsal	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital short urethra (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
symbrachydactylie	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital undergrowth of partial lower limb	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microblepharia (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acromicric dysplasia	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
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)	7
Microdactyly	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly type A1	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly type A4	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly type A6 (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weill-Marchesani syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cooks syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital short bowel syndrome	Associated morphology	True	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)	1
Acromicric dysplasia	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type C	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of part of upper limb (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachymelia of lower limb (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Symbrachydactyly of toe (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mammary digital nail syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Lethal faciocardiomelic dysplasia (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Triphalangeal thumb with brachyectrodactyly syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Acrorenal mandibular syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly and arterial hypertension syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Brachydactyly type A2 (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly type A5 (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly type A7	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly with syndactyly Zhao type (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrorenal mandibular syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Short fifth metacarpal insulin resistance syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Heart-hand syndrome Slovenian type (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hirschsprung disease with type D brachydactyly syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Brachydactyly type A1	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital short oesophagus	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ballard syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Distal limb deficiency with micrognathia syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested.	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Cryptomicrotia brachydactyly syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital short costocoracoid ligament (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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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
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