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673791000119108: Congenital deformity of soft tissue (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4945492019 Congenital deformity of soft tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4945493012 Congenital deformity of soft tissue (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7783671000241111 déformation congénitale des tissus mous fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

32 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deformity of soft tissue Is a Disorder of soft tissue true Inferred relationship Some
Congenital deformity of soft tissue Is a Congenital deformity true Inferred relationship Some
Congenital deformity of soft tissue Occurrence Congenital true Inferred relationship Some 1
Congenital deformity of soft tissue Finding site Structure of soft tissue (body structure) true Inferred relationship Some 1
Congenital deformity of soft tissue Associated morphology Deformity true Inferred relationship Some 1
Congenital deformity of soft tissue Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital deformity of soft tissue Is a Deformity of tissue true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital elongation of innominate artery Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital shortening of tendon Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital contracture of gastrocnemius muscle (disorder) Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital tortuosity of branch of aortic arch (disorder) Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital short growth of innominate artery Is a True Congenital deformity of soft tissue Inferred relationship Some
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Congenital deformity of soft tissue Inferred relationship Some
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Is a True Congenital deformity of soft tissue Inferred relationship Some
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Is a True Congenital deformity of soft tissue Inferred relationship Some
A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989. Is a True Congenital deformity of soft tissue Inferred relationship Some
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital deformity of mitral valve annulus (disorder) Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital ectropion of lip Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital skin contracture Is a True Congenital deformity of soft tissue Inferred relationship Some
Pili torti Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital combined bony and soft tissue deformity of orbit (disorder) Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital pterygium of nail (disorder) Is a True Congenital deformity of soft tissue Inferred relationship Some
Congenital deformity of sternocleidomastoid muscle Is a True Congenital deformity of soft tissue Inferred relationship Some

This concept is not in any reference sets

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