717887003: syndrome de Biemond type 2 (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Biemond syndrome type 2 (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Iris finding\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Iris finding\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Iris finding\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Iris finding\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Biemond syndrome type 2 (disorder)

\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Lesion of iris (disorder)\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Biemond syndrome type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Biemond syndrome type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Biemond syndrome type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Biemond syndrome type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris (disorder)\Biemond syndrome type 2 (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Biemond syndrome type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324371017 Biemond syndrome type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324372012 Biemond syndrome type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

751631000241119 syndrome de Biemond type 2 (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

916961000172117 syndrome d'hypogonadisme, petite taille, colobome, polydactylie préaxiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

971351000172119 syndrome de Biemond type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3324374013 An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Biemond syndrome type 2 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Biemond syndrome type 2 (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Biemond syndrome type 2 (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Biemond syndrome type 2 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Biemond syndrome type 2 (disorder)	est un(e) (attribut)	Coloboma of iris	false	Inferred relationship	Some
Biemond syndrome type 2 (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Biemond syndrome type 2 (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Biemond syndrome type 2 (disorder)	est un(e) (attribut)	insuffisance staturale	true	Inferred relationship	Some
Biemond syndrome type 2 (disorder)	morphologie associée (attribut)	Congenital failure of fusion	false	Inferred relationship	Some	1
Biemond syndrome type 2 (disorder)	localisation d'une constatation (attribut)	iris	true	Inferred relationship	Some	1
Biemond syndrome type 2 (disorder)	est un(e) (attribut)	Congenital coloboma of iris (disorder)	true	Inferred relationship	Some
Biemond syndrome type 2 (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Biemond syndrome type 2 (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Biemond syndrome type 2 (disorder)	localisation d'une constatation (attribut)	iris	false	Inferred relationship	Some	2
Biemond syndrome type 2 (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets