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771266007: Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705350016 Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705351017 Torticollis, keloids, cryptorchidism, renal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705353019 An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777379018 An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented naevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) localisation d'une constatation (attribut) muscle squelettique du cou true Inferred relationship Some 2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal muscle true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) anomalie congénitale du cou true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) X-linked dominant hereditary disease (disorder) true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Congenital deformity of soft tissue true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Torticollis true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Renal dysplasia true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of skin true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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