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765755006: Axial mesodermal dysplasia spectrum (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\Disease\...
    • \Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula.
    • \Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3659587014 Russell Weaver Bull syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3659589012 Axial mesodermal dysplasia spectrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659590015 Axial mesodermal dysplasia spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659591016 Blastogenesis defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404570011 Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404571010 Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3659587014 Russell Weaver Bull syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3659589012 Axial mesodermal dysplasia spectrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659590015 Axial mesodermal dysplasia spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659591016 Blastogenesis defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659588016 A rare developmental defect during embryogenesis syndrome with characteristics of congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (for example preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia) along with anal anomalies such as anal atresia and rectovesical fistula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404570011 Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404571010 Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3414761001000119 Dysplasie, axiale mesodermale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
915971000172116 dysplasie mésodermique axiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928041000172113 anomalies de la blastogenèse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
915971000172116 dysplasie mésodermique axiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928041000172113 anomalies de la blastogenèse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414761001000119 Dysplasie, axiale mesodermale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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