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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
Dimple Is a False Abnormal shape (morphologic abnormality) Inferred relationship Some
Fold Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Wrinkle Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Congenital abnormal shape Is a False Abnormal shape (morphologic abnormality) Inferred relationship Some
Abnormal curvature Is a False Abnormal shape (morphologic abnormality) Inferred relationship Some
Deformity Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Indentation Is a True Abnormal shape (morphologic abnormality) Inferred relationship Some
Parrot-beak nail Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Pincer nail deformity Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Overcurvature of nail Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Longitudinal overcurvature of nail Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Transverse overcurvature of nail Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Koilonychia Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Abnormality of nail shape (disorder) Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Transverse overcurvature of nail Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Abnormality of nail shape (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Longitudinal overcurvature of nail Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Koilonychia Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Pincer nail deformity Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Overcurvature of nail Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Parrot-beak nail Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Turtleback nail Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of arch of cervical vertebra Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital discoid lateral meniscus of knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital discoid meniscus of knee (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Misshapen ear Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Tapered teeth (disorder) Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 3
Mis-shapen pelvis Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Acquired koilonychia (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of arch of thoracic vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Bicornuate uterus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of radius (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Mesotaurodontism Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Uterus bicornis unicollis Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Uterus arcuatus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of ischium Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of mandible Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of zygomatic bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of rib Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Leptocephaly Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of auditory ossicles Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of basisphenoid bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of lumbar vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
ménisque discoïde congénital Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Parachute malformation of tricuspid valve Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Manus extensa Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital abnormal shape of basioccipital bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital abnormal shape of metacarpal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of calcaneus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of frontal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Hypertaurodontism Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of exoccipital bone (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital bowing of fibula Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of scapula 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 1
Congenital abnormal shape of metatarsal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Lenticonus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Congenital abnormal shape of premaxilla Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of centrum of thoracic vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of gallbladder Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Posterior lenticonus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Trigonocephaly Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of spleen Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Bathrocephaly Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of lacrimal bone (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Uterus bicornis bicollis with patent cervix and vagina Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of nasal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of sacral vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of squamosal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of carpal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of alisphenoid bone (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Coloboma of lens Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 3
elliptocytose congénitale Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Secondary lens coloboma (disorder) Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Platyspondylia Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of ovary (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Overriding skull bones Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 2
Long narrow head Associated morphology False Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Bicornuate uterus affecting pregnancy (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of hyoid bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of centrum of cervical vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of arch of lumbar vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of ilium Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Uterus incudiformis Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormality of skull shape Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of talus Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of sternebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of palate rugae Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of inner ear Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of fibula Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of tarsal bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of centrum of sacral vertebra Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of humerus (disorder) Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal shape of palatine bone Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of lens shape Associated morphology True Abnormal shape (morphologic abnormality) Inferred relationship Some 1

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