1340175001: Carboxypeptidase E-related Prader-Willi-like syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Body measurement finding\Weight finding\High body weight (finding)\Obese\Obesity\...
• \Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Morbid obesity (disorder)\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Genetic disease\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Obesity\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Obesity\Morbid obesity (disorder)\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5373329013	Blakemore Durmaz Vasileiou syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373330015	BDV (Blakemore Durmaz Vasileiou) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373331016	Carboxypeptidase E-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5373332011	CPE-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373333018	Carboxypeptidase E-related Prader-Willi-like syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5373334012	BDV syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373335013	A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373329013	Blakemore Durmaz Vasileiou syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373330015	BDV (Blakemore Durmaz Vasileiou) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373331016	Carboxypeptidase E-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5373332011	CPE-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373333018	Carboxypeptidase E-related Prader-Willi-like syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5373334012	BDV syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373335013	A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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