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399984000: Abnormal shape (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1767904019 Abnormal shape (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1779261010 Abnormal shape en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
65511000077116 forme anormale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

69 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal shape (morphologic abnormality) Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of lens shape Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
utérus bicorne affectant les soins obstétricaux Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of adrenal gland Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Uterus bicornis bicollis Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of pulmonary valve Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 4
Uterus bicornis unicollis with septate vagina Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital abnormal shape of interparietal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of testis (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of parietal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Bicornuate uterus in pregnancy, childbirth and the puerperium Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal roundness Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Primary lens coloboma (disorder) Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Talipomanus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of thymus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of cerebellum Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Peg-shaped teeth Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of pinna Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of aortic valve Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of kidney Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital hourglass urinary bladder Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of tibia Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Hypotaurodontism (disorder) Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of cerebrum Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Manus flexa Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital abnormal shape of tricuspid valve Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of tympanic anulus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of clavicle Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital koilonychia Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of supraoccipital bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of mitral valve Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of ulna Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of digit Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of maxilla Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of pubis Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Taurodontism Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of centrum of lumbar vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of presphenoid bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of liver Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of fallopian tube (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of uterus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Manus vara Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Anterior lenticonus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of arch of sacral vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Domed head Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Manus valga Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital abnormal shape of lung (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of vomer Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of femur Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Complete perimaxillary faciosynostosis (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital notch Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Tapered teeth (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Hypertaurodontism Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Hypotaurodontism (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Mesotaurodontism Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Taurodontism Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Interfrontal craniofaciosynostosis Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Uterus bicornis bicollis with blind hemi-vagina (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 3
Congenital abnormal shape of arch of cervical vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Parachute malformation of common atrioventricular valve Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Multirooted tooth with divergent roots Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Multirooted tooth with convergent roots Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Peg-shaped tooth (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Irregular alveolar process Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Annular placenta Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Placenta fenestrata Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Placenta multipartita Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid posterior horn of medial meniscus of knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid anterior horn of medial meniscus of knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid medial meniscus of knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid anterior horn of lateral meniscus of knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid posterior horn of lateral meniscus of knee Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 3
Nievergelt's syndrome Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Nievergelt's syndrome Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 4
Congenital discoid meniscus of right knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid meniscus of left knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid meniscus of bilateral knees (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid meniscus of bilateral knees (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Misshapen sternum Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Dome-shaped maculopathy (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Dome-shaped maculopathy of right eye (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Dome-shaped maculopathy of left eye (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Bilateral dome-shaped maculopathy Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Bilateral dome-shaped maculopathy Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Abnormal tapering (morphologic abnormality) Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Abnormal cone shape Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Abnormal narrow shape (morphologic abnormality) Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Abnormal rhomboidal shape (morphologic abnormality) Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Abnormal triangular shape (morphologic abnormality) Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Abnormal broad shape Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 3
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 4
T-shaped uterus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1

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