716023007: syndroom van prominente glabella, microcefalie en hypogonadisme (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Finding of head region\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304466019 Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304467011 Prominent glabella with microcephaly and hypogenitalism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304468018 MacDermot Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6714781000146116 syndroom van prominente glabella, microcefalie en hypogonadisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6714791000146119 syndroom van prominente glabella, microcefalie en hypogenitalisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6714801000146115 syndroom van prominente glabella, microcefalie en hypogonadisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3304469014 A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. 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
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	microcefalie	false	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Disorder of skull (disorder)	false	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Gonadal dysgenesis	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Finding site	Structure of glabella	false	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	3
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	3
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	4
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Finding site	Gonadal structure	false	Inferred relationship	Some	4
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Finding site	Gonadal structure	true	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Finding site	Structure of glabella	true	Inferred relationship	Some	3
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Disorder of face (disorder)	false	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Congenital anomaly of frontal bone	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304466019	Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304467011	Prominent glabella with microcephaly and hypogenitalism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304468018	MacDermot Winter syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6714781000146116	syndroom van prominente glabella, microcefalie en hypogonadisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6714791000146119	syndroom van prominente glabella, microcefalie en hypogenitalisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6714801000146115	syndroom van prominente glabella, microcefalie en hypogonadisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3304469014	A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core