237617006: anémie mégaloblastique, thiamine-sensible, avec diabète sucré et surdité de perception (trouble)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\...

\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\Digestive system finding (finding)\constatation à propos du pancréas\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Digestive system finding (finding)\constatation à propos du pancréas\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...

\troubles héréditaires des éléments figurés du sang\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\anémie\Anemia related to disturbed DNA synthesis\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\anémie\Macrocytic anemia\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\anémie\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Anemia related to disturbed DNA synthesis\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Macrocytic anemia\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\pathologie endocrinologique\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\pathologie endocrinologique\anomalie congénitale d'une glande endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble du métabolisme du glucose\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'une glande endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\Congenital disease\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\trouble du développement\Developmental hereditary disorder\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'une glande endocrine\Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3541846014 Thiamine-responsive megaloblastic anemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3541847017 Thiamine-responsive megaloblastic anaemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356108013 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356109017 Rogers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356110010 Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626372011 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

703031000077117 anémie mégaloblastique, thiamine-sensible, avec diabète sucré et surdité de perception (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

80481000077115 anémie mégaloblastique, thiamine-sensible, avec diabète sucré et surdité de perception fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	5
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Decreased hearing	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Diabetes mellitus associated with genetic syndrome	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	associé à (attribut)	Genetic disease	true	Inferred relationship	Some	7
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est défini par la manifestation de (attribut)	Erythropenia	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	pathologie endocrinologique	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Disorder of body cavity (disorder)	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	affection abdominale	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	constatation à propos d'un organe abdominal	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	localisation d'une constatation (attribut)	structure du pancréas endocrine	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	localisation d'une constatation (attribut)	Erythrocyte	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Multisystem disorder M-N (navigational concept)	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	affection du pancréas endocrine	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	anémie mégaloblastique (trouble)	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	interprète (attribut)	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	2
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	anomalie congénitale d'une glande endocrine	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Thiamine-responsive megaloblastic anemia	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Erythropenia	false	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Congenital malformation of pancreas	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	troubles héréditaires des éléments figurés du sang	true	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	a pour interprétation (attribut)	Decreased	true	Inferred relationship	Some	3
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	3
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	localisation d'une constatation (attribut)	structure du pancréas endocrine	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3541846014	Thiamine-responsive megaloblastic anemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3541847017	Thiamine-responsive megaloblastic anaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356108013	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356109017	Rogers syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356110010	Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626372011	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
703031000077117	anémie mégaloblastique, thiamine-sensible, avec diabète sucré et surdité de perception (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
80481000077115	anémie mégaloblastique, thiamine-sensible, avec diabète sucré et surdité de perception	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)